| AnnotSV ID | ACMG classSV ranking class (from 1 to 5) following the 2020 joint consensus recommendation of ACMG and ClinGen | SV typeType of the SV (DEL, DUP...) | Annotation modeType of annotation lines generated: - annotation on the SV full length (full) - annotation on each gene overlapped by the SV (split) |
Gene nameGene symbol | LocationHover your mouse to highlight SV location annotations in the gene | OMIM IDHover your mouse to highlight OMIM annotations | Exomiser scoreShow how close each overlapped gene is to the patient phenotype Highly specific and consistent phenotype: score > 0.7 Consistent phenotype: score > 0.5 |
PhenoGenius specificityPhenotype specificity into one of A, B, C, D or . : A - Highly specific and relatively unique to the gene B - Consistent with the gene, highly specific, but not necessarily unique to the gene C - Limited association with the gene, not highly specific and/or with high genetic heterogeneity D - Not consistent with what is expected for the gene/genomic region or not consistent in general . - No reported phenotype |
Overlapped regulatory elementsReport the name of the genes potentially badly regulated | Pathogenic SVKnown pathogenic genes or genomic regions (with the same SV type; from ClinVar, ClinGen, dbVar, OMIM) completely overlapped with the SV to annotate | Number of pathogenic SNV/indel overlappedPathogenic SNV/indel (from ClinVar) completely overlapped with the SV to annotate | Benign SVBenign genomic regions (with the same SV type; from gnomAD, ClinVar, ClinGen, DGV, DDD, 1000g, IMH) completely overlapping the SV to annotate | Left breakpoint annotationsHover your mouse to highlight the left SV breakpoint (+/- 100bp) annotations | Right breakpoint annotationsHover your mouse to highlight the right SV breakpoint (+/- 100bp) annotations |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
5ACMG_class : 5 AnnotSV_ranking_score : 1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3A (6 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 82213 Gene_count : 6 |
fullAnnotation_mode : full |
CPNE1; RBM12; NFS1; ROMO1; RBM39; [...6genes]Gene_name : CPNE1; RBM12; NFS1; ROMO1; RBM39; LOC124904980; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 31.02 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.23842297557016 ExAC_synZ : 1.38318761602961 ExAC_misZ : 4.74208284095117 Closest_left : SPAG4 Closest_right : PHF20 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=[...]RE_gene : GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=EA_enhancer); |
20:35668052-35699352P_loss_coord : 20:35668052-35699352 P_loss_source : morbid:NFS1 P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.53; 2.06; 2.43; 0.66; 17.91 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 20:35684384-35685764 IMH; 20:35684621-35685320 IMH; po_B_loss_someG_coord : 20:35684357-35685806 DDD:54726; 20:35684455-35685636 IMH; chr20:35702959-35703024 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35717708-35717862; 20:35717864-35718158 Repeat_type_right : AluJb; AluY Gap_right : . GC_content_right : 0.465 |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 82213 |
splitAnnotation_mode : split |
NFS1Gene_name : NFS1; LOEUF_bin : 2 GnomAD_pLI : 5.5351e-02 ExAC_pLI : 8.3212e-01 HI : . TS : . DDD_HI_percent : 16.38 ACMG : . ExAC_cnvZ : -1.32339341252377 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21816840287075 ExAC_synZ : -0.588478731156264 ExAC_misZ : 1.53876878093165 GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206 NCBI_gene_ID : 9054 |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.22 Location2 : 5'UTR-3'UTR Tx : NM_021100 Tx_version : 5 Tx_start : 35668051 Tx_end : 35699352 Exon_count : 13 Overlapped_tx_length : 31301 Overlapped_CDS_length : 1374 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 35668051 Intersect_end : 35699352 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
20:35668052-35699352P_loss_coord : 20:35668052-35699352 P_loss_source : morbid:NFS1 P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 82213 |
splitAnnotation_mode : split |
RBM12Gene_name : RBM12; LOEUF_bin : 4 GnomAD_pLI : 2.1086e-03 ExAC_pLI : 4.7467e-01 HI : . TS : . DDD_HI_percent : 14.23 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.047566760715049 ExAC_misZ : 0.843417796536372 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10137 |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.22 Location2 : 5'UTR-3'UTR Tx : NM_001198838 Tx_version : 2 Tx_start : 35648924 Tx_end : 35664900 Exon_count : 3 Overlapped_tx_length : 15976 Overlapped_CDS_length : 2799 Overlapped_CDS_percent : 99 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 35648924 Intersect_end : 35664900 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 82213 |
splitAnnotation_mode : split |
CPNE1Gene_name : CPNE1; LOEUF_bin : 6 GnomAD_pLI : 1.7292e-14 ExAC_pLI : 3.8710e-07 HI : . TS : . DDD_HI_percent : 31.02 ACMG : . ExAC_cnvZ : -1.74880955339683 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.0224675137589206 ExAC_synZ : 0.497981592999118 ExAC_misZ : 0.0619532546152601 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8904 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_003915 Tx_version : 6 Tx_start : 35626043 Tx_end : 35653909 Exon_count : 16 Overlapped_tx_length : 18347 Overlapped_CDS_length : 15 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2639 Nearest_SS_type : 3' Intersect_start : 35635562 Intersect_end : 35653909 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 82213 |
splitAnnotation_mode : split |
ROMO1Gene_name : ROMO1; LOEUF_bin : 7 GnomAD_pLI : 2.3400e-01 ExAC_pLI : 7.2681e-01 HI : . TS : . DDD_HI_percent : 11.99 ACMG : . ExAC_cnvZ : -1.29962656319736 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.23842297557016 ExAC_synZ : 1.38318761602961 ExAC_misZ : 1.67828870198139 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140823 |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.22 Location2 : 5'UTR-3'UTR Tx : NM_080748 Tx_version : 3 Tx_start : 35699404 Tx_end : 35700980 Exon_count : 3 Overlapped_tx_length : 1576 Overlapped_CDS_length : 240 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 35699404 Intersect_end : 35700980 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 82213 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
intron9-txEndLocation : intron9-txEnd CytoBand : q11.22 Location2 : CDS-3'UTR Tx : XM_006723891 Tx_version : 5 Tx_start : 35701346 Tx_end : 35740892 Exon_count : 17 Overlapped_tx_length : 16429 Overlapped_CDS_length : 768 Overlapped_CDS_percent : 68 Frameshift : no Dist_nearest_SS : 970 Nearest_SS_type : 3' Intersect_start : 35701346 Intersect_end : 35717775 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 82213 |
splitAnnotation_mode : split |
LOC124904980Gene_name : LOC124904980; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.22 Location2 : UTR Tx : XR_007067771 Tx_version : 1 Tx_start : 35716470 Tx_end : 35716570 Exon_count : 1 Overlapped_tx_length : 100 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 35716470 Intersect_end : 35716570 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
5ACMG_class : 5 AnnotSV_ranking_score : 1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3A (5 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 74907 Gene_count : 5 |
fullAnnotation_mode : full |
RBBP8NL; LOC105372710; GATA5; LOC105372711; LOC124904947; [...5genes]Gene_name : RBBP8NL; LOC105372710; GATA5; LOC105372711; LOC124904947; LOEUF_bin : 3 GnomAD_pLI : 2.8478e-01 ExAC_pLI : 2.5074e-01 HI : . TS : . DDD_HI_percent : 89.27 ExAC_cnvZ : 0.342194795158591 ExAC_delZ : 0.0278724337289648 ExAC_dupZ : 0.647941596336579 ExAC_synZ : 0.671488868879144 ExAC_misZ : 0.743319262603808 Closest_left : LOC105372709 Closest_right : LOC105376995 |
.Location : . CytoBand : q13.33 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morb[...]RE_gene : SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); |
20:62463497-62475995P_loss_coord : 20:62463497-62475995 P_loss_source : morbid:GATA5 P_loss_phen : Congenital heart defects, multiple types, 5, 617912 (3) AR,AD P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639 po_P_loss_percent : 3.70; 3.01; 1.84; 1.92 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:62429901-62472599 dbVar; chr20:62432387-62439301 dbVar; chr20:62467971-62468288 dbVar; chr20:62476875-62477305 dbVar; chr20:62476942-62477066 HPRC:pbsv.DEL.5183; chr20:62476974-62477086 HPRC:pbsv.DEL.5185; po_B_loss_someG_coord : chr20:62418754-62459551 dbVar; chr20:62429953-62456719 dbVar; chr20:62463383-62463433 dbVar; 20:62467972-62468120 CMRI:13_pbsv.DEL.1291_duplicate8; chr20:62476879-62477314 dbVar; 20:62476970-62477072 CMRI:13_pbsv.DEL.1292_duplicate6; 20:62477101-62477266 CMRI:4_pbsv.DEL.1376_duplicate6 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62421200-62421932 Repeat_type_left : (GT)n Gap_left : . GC_content_left : 0.575 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.485 |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 74907 |
splitAnnotation_mode : split |
GATA5Gene_name : GATA5; LOEUF_bin : 3 GnomAD_pLI : 2.8478e-01 ExAC_pLI : 2.5074e-01 HI : . TS : . DDD_HI_percent : 30.83 ACMG : . ExAC_cnvZ : 0.342194795158591 ExAC_delZ : -0.355959343507116 ExAC_dupZ : 0.647941596336579 ExAC_synZ : 0.671488868879144 ExAC_misZ : 0.743319262603808 GenCC_disease : congenital heart defects, multiple types, 5; familial atrial fibrillation; familial bicuspid aortic valve; tetralogy of fallot GenCC_moi : AD GenCC_classification : Limited; Supportive GenCC_pmid : 22483626[PMID]_23175127[PMID]_23295592[PMID]; 23031282; 23289003; 23289003[PMID]; 24638895[PMID]; 27066509; 28372585 NCBI_gene_ID : 140628 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : 5'UTR-3'UTR Tx : NM_080473 Tx_version : 5 Tx_start : 62463496 Tx_end : 62475995 Exon_count : 7 Overlapped_tx_length : 12499 Overlapped_CDS_length : 1194 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62463496 Intersect_end : 62475995 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
20:62463497-62475995P_loss_coord : 20:62463497-62475995 P_loss_source : morbid:GATA5 P_loss_phen : Congenital heart defects, multiple types, 5, 617912 (3) AR,AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 74907 |
splitAnnotation_mode : split |
RBBP8NLGene_name : RBBP8NL; LOEUF_bin : 3 GnomAD_pLI : 9.8478e-03 ExAC_pLI : 7.4885e-03 HI : . TS : . DDD_HI_percent : 89.27 ACMG : . ExAC_cnvZ : 0.203725053083875 ExAC_delZ : 0.0278724337289648 ExAC_dupZ : 0.237552928774473 ExAC_synZ : -0.760062235436627 ExAC_misZ : -0.914741460581054 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140893 |
txStart-intron1Location : txStart-intron1 CytoBand : q13.33 Location2 : 5'UTR Tx : NM_080833 Tx_version : 3 Tx_start : 62410236 Tx_end : 62427539 Exon_count : 14 Overlapped_tx_length : 5617 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2192 Nearest_SS_type : 3' Intersect_start : 62421922 Intersect_end : 62427539 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:62418754-62459551 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 74907 |
splitAnnotation_mode : split |
LOC105372711Gene_name : LOC105372711; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : XR_001754702 Tx_version : 2 Tx_start : 62480451 Tx_end : 62491198 Exon_count : 3 Overlapped_tx_length : 10747 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62480451 Intersect_end : 62491198 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 74907 |
splitAnnotation_mode : split |
LOC124904947Gene_name : LOC124904947; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : XR_007067707 Tx_version : 1 Tx_start : 62494824 Tx_end : 62496014 Exon_count : 2 Overlapped_tx_length : 1190 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62494824 Intersect_end : 62496014 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 74907 |
splitAnnotation_mode : split |
LOC105372710Gene_name : LOC105372710; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : NR_187662 Tx_version : 1 Tx_start : 62427829 Tx_end : 62431509 Exon_count : 4 Overlapped_tx_length : 3680 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62427829 Intersect_end : 62431509 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:62418754-62459551 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
5ACMG_class : 5 AnnotSV_ranking_score : 1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 79055 Gene_count : 2 |
fullAnnotation_mode : full |
SLC4A11; DNAAF9; [...2genes]Gene_name : SLC4A11; DNAAF9; LOEUF_bin : 5 GnomAD_pLI : 4.6435e-15 ExAC_pLI : 1.3673e-08 HI : . TS : . DDD_HI_percent : 65.76 ExAC_cnvZ : -0.410334386032431 ExAC_delZ : 0.143852351231961 ExAC_dupZ : -0.670363301132967 ExAC_synZ : -0.0807870947861307 ExAC_misZ : 1.31098401962572 Closest_left : ITPA Closest_right : LOC124904983 |
.Location : . CytoBand : p13 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid[...]RE_gene : VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer); |
20:3234559-3239200P_loss_coord : 20:3234559-3239200 P_loss_source : dbVar:nssv17172689 P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR; Corneal endothelial dystrophy, AR, 217700 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv16213489; morbid:SLC4A11; dbVar:nssv17172690 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735; 20:3227408-3239200; 20:3230555-3238189; 20:3233505-3239200 po_P_loss_percent : 1.38; 3.11; 9.40; 0.56; 0.91; 43.08; 53.29; 89.19 |
15P_snvindel_nb : 15 P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3236447-3236502 dbVar; chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar; chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355 po_B_loss_someG_coord : 20:3234326-3234536 DDD:54166; chr20:3236581-3236601 HPRC:pbsv.DEL.347; chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318; chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.670 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.435 |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 79055 |
splitAnnotation_mode : split |
SLC4A11Gene_name : SLC4A11; LOEUF_bin : 5 GnomAD_pLI : 4.6435e-15 ExAC_pLI : 1.3673e-08 HI : . TS : . DDD_HI_percent : 65.76 ACMG : . ExAC_cnvZ : -0.410334386032431 ExAC_delZ : 0.143852351231961 ExAC_dupZ : -0.670363301132967 ExAC_synZ : -0.0807870947861307 ExAC_misZ : 1.31098401962572 GenCC_disease : Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; corneal dystrophy, Fuchs endothelial, 4; corneal dystrophy-perceptive deafness syndrome GenCC_moi : AD; AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16767101[PMID]_24351571[PMID]; 16825429; 17220209; 17220209[PMID]_18922146[PMID]; 17262014; 17397048; 17679935; 18024964; 18474783; 20625449; 2084855; 20848555; 20848555[PMID]; 22072594; 23585771; 24502824; 24916015; 25007886; 28973083; 29327391; 31714402; 36115991 NCBI_gene_ID : 83959 |
txStart-exon5Location : txStart-exon5 CytoBand : p13 Location2 : 5'UTR-CDS Tx : XM_017028093 Tx_version : 2 Tx_start : 3227416 Tx_end : 3238189 Exon_count : 20 Overlapped_tx_length : 4069 Overlapped_CDS_length : 614 Overlapped_CDS_percent : 23 Frameshift : yes Dist_nearest_SS : 38 Nearest_SS_type : 5' Intersect_start : 3234120 Intersect_end : 3238189 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
15P_snvindel_nb : 15 P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 79055 |
splitAnnotation_mode : split |
intron20-txEndLocation : intron20-txEnd CytoBand : p13 Location2 : CDS-3'UTR Tx : NM_001009984 Tx_version : 3 Tx_start : 3249305 Tx_end : 3407669 Exon_count : 37 Overlapped_tx_length : 63870 Overlapped_CDS_length : 1856 Overlapped_CDS_percent : 52 Frameshift : yes Dist_nearest_SS : 1857 Nearest_SS_type : 5' Intersect_start : 3249305 Intersect_end : 3313175 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
5ACMG_class : 5 AnnotSV_ranking_score : 1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 36903 Gene_count : 2 |
fullAnnotation_mode : full |
SLC4A11; DNAAF9; [...2genes]Gene_name : SLC4A11; DNAAF9; LOEUF_bin : 5 GnomAD_pLI : 4.6435e-15 ExAC_pLI : 1.3673e-08 HI : . TS : . DDD_HI_percent : 65.76 ExAC_cnvZ : -0.410334386032431 ExAC_delZ : 0.143852351231961 ExAC_dupZ : -0.670363301132967 ExAC_synZ : -0.0807870947861307 ExAC_misZ : 1.31098401962572 Closest_left : ITPA Closest_right : LOC124904983 |
.Location : . CytoBand : p13 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/R[...]RE_gene : ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); |
20:3234559-3239200P_loss_coord : 20:3234559-3239200 P_loss_source : dbVar:nssv17172689 P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR; Corneal endothelial dystrophy, AR, 217700 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv16213489; morbid:SLC4A11; dbVar:nssv17172690 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735; 20:3227408-3239200; 20:3230555-3238189; 20:3233505-3239200 po_P_loss_percent : 0.64; 1.45; 4.39; 0.26; 0.43; 43.08; 53.29; 89.19 |
15P_snvindel_nb : 15 P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3236447-3236502 dbVar; chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar po_B_loss_someG_coord : 20:3234326-3234536 DDD:54166; chr20:3236581-3236601 HPRC:pbsv.DEL.347; chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.670 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3270811-3271112 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.510 |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 36903 |
splitAnnotation_mode : split |
SLC4A11Gene_name : SLC4A11; LOEUF_bin : 5 GnomAD_pLI : 4.6435e-15 ExAC_pLI : 1.3673e-08 HI : . TS : . DDD_HI_percent : 65.76 ACMG : . ExAC_cnvZ : -0.410334386032431 ExAC_delZ : 0.143852351231961 ExAC_dupZ : -0.670363301132967 ExAC_synZ : -0.0807870947861307 ExAC_misZ : 1.31098401962572 GenCC_disease : Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; corneal dystrophy, Fuchs endothelial, 4; corneal dystrophy-perceptive deafness syndrome GenCC_moi : AD; AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16767101[PMID]_24351571[PMID]; 16825429; 17220209; 17220209[PMID]_18922146[PMID]; 17262014; 17397048; 17679935; 18024964; 18474783; 20625449; 2084855; 20848555; 20848555[PMID]; 22072594; 23585771; 24502824; 24916015; 25007886; 28973083; 29327391; 31714402; 36115991 NCBI_gene_ID : 83959 |
txStart-exon5Location : txStart-exon5 CytoBand : p13 Location2 : 5'UTR-CDS Tx : XM_017028093 Tx_version : 2 Tx_start : 3227416 Tx_end : 3238189 Exon_count : 20 Overlapped_tx_length : 4069 Overlapped_CDS_length : 614 Overlapped_CDS_percent : 23 Frameshift : yes Dist_nearest_SS : 38 Nearest_SS_type : 5' Intersect_start : 3234120 Intersect_end : 3238189 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
15P_snvindel_nb : 15 P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 36903 |
splitAnnotation_mode : split |
intron10-txEndLocation : intron10-txEnd CytoBand : p13 Location2 : CDS-3'UTR Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 21718 Overlapped_CDS_length : 884 Overlapped_CDS_percent : 49 Frameshift : yes Dist_nearest_SS : 461 Nearest_SS_type : 3' Intersect_start : 3249305 Intersect_end : 3271023 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
5ACMG_class : 5 AnnotSV_ranking_score : 1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 79979 Gene_count : 2 |
fullAnnotation_mode : full |
SLC4A11; DNAAF9; [...2genes]Gene_name : SLC4A11; DNAAF9; LOEUF_bin : 5 GnomAD_pLI : 4.6435e-15 ExAC_pLI : 1.3673e-08 HI : . TS : . DDD_HI_percent : 65.76 ExAC_cnvZ : -0.410334386032431 ExAC_delZ : 0.143852351231961 ExAC_dupZ : -0.670363301132967 ExAC_synZ : -0.0807870947861307 ExAC_misZ : 1.31098401962572 Closest_left : ITPA Closest_right : LOC124904983 |
.Location : . CytoBand : p13 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
NOP56 (morbid/RE=EA_enhancer); AVP (morbid/RE[...]RE_gene : NOP56 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); |
20:3233505-3239200; 20:3234559-3239200P_loss_coord : 20:3233505-3239200; 20:3234559-3239200 P_loss_source : dbVar:nssv17172689; dbVar:nssv17172690 P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR; Corneal endothelial dystrophy, AR, 217700 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv16213489; morbid:SLC4A11 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735; 20:3227408-3239200; 20:3230555-3238189 po_P_loss_percent : 1.40; 3.15; 9.51; 0.57; 0.92; 50.91; 65.40 |
30P_snvindel_nb : 30 P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3236447-3236502 dbVar; chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar; chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355 po_B_loss_someG_coord : 20:3234326-3234536 DDD:54166; chr20:3236581-3236601 HPRC:pbsv.DEL.347; chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318; chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.560 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.435 |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 79979 |
splitAnnotation_mode : split |
SLC4A11Gene_name : SLC4A11; LOEUF_bin : 5 GnomAD_pLI : 4.6435e-15 ExAC_pLI : 1.3673e-08 HI : . TS : . DDD_HI_percent : 65.76 ACMG : . ExAC_cnvZ : -0.410334386032431 ExAC_delZ : 0.143852351231961 ExAC_dupZ : -0.670363301132967 ExAC_synZ : -0.0807870947861307 ExAC_misZ : 1.31098401962572 GenCC_disease : Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; corneal dystrophy, Fuchs endothelial, 4; corneal dystrophy-perceptive deafness syndrome GenCC_moi : AD; AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16767101[PMID]_24351571[PMID]; 16825429; 17220209; 17220209[PMID]_18922146[PMID]; 17262014; 17397048; 17679935; 18024964; 18474783; 20625449; 2084855; 20848555; 20848555[PMID]; 22072594; 23585771; 24502824; 24916015; 25007886; 28973083; 29327391; 31714402; 36115991 NCBI_gene_ID : 83959 |
txStart-intron7Location : txStart-intron7 CytoBand : p13 Location2 : 5'UTR-CDS Tx : XM_017028093 Tx_version : 2 Tx_start : 3227416 Tx_end : 3238189 Exon_count : 20 Overlapped_tx_length : 4993 Overlapped_CDS_length : 858 Overlapped_CDS_percent : 32 Frameshift : no Dist_nearest_SS : 317 Nearest_SS_type : 5' Intersect_start : 3233196 Intersect_end : 3238189 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
30P_snvindel_nb : 30 P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 79979 |
splitAnnotation_mode : split |
intron20-txEndLocation : intron20-txEnd CytoBand : p13 Location2 : CDS-3'UTR Tx : NM_001009984 Tx_version : 3 Tx_start : 3249305 Tx_end : 3407669 Exon_count : 37 Overlapped_tx_length : 63870 Overlapped_CDS_length : 1856 Overlapped_CDS_percent : 52 Frameshift : yes Dist_nearest_SS : 1857 Nearest_SS_type : 5' Intersect_start : 3249305 Intersect_end : 3313175 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
5ACMG_class : 5 AnnotSV_ranking_score : 1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 28525 Gene_count : 1 |
fullAnnotation_mode : full |
JPH2Gene_name : JPH2; LOEUF_bin : 4 GnomAD_pLI : 4.5187e-05 ExAC_pLI : 1.4504e-02 HI : . TS : . DDD_HI_percent : 52.4 ExAC_cnvZ : -0.313290653611826 ExAC_delZ : -1.46882857123298 ExAC_dupZ : 0.669080902512314 ExAC_synZ : 3.05967055109539 ExAC_misZ : 3.93024751544471 Closest_left : LOC124904909 Closest_right : OSER1 |
.Location : . CytoBand : q13.12 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ADA (morbid/RE=EA_enhancer); HNF4A (morbid/RE[...]RE_gene : ADA (morbid/RE=EA_enhancer); HNF4A (morbid/RE=EA_enhancer); |
20:44176817-44187188P_loss_coord : 20:44176817-44187188 P_loss_source : morbid:JPH2 P_loss_phen : Cardiomyopathy, dilated, 2E, 619492 (3) AR; Cardiomyopathy, hypertrophic, 17, 613873 (3) AD P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv16254073 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44149494-44450551 po_P_loss_percent : 0.18; 0.23; 0.24; 1.18; 9.47 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:44162763-44162791 HPRC:pbsv.DEL.3352 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:44162360-44162745 Repeat_type_left : MLT2A2 Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.455 |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 28525 |
splitAnnotation_mode : split |
JPH2Gene_name : JPH2; LOEUF_bin : 4 GnomAD_pLI : 4.5187e-05 ExAC_pLI : 1.4504e-02 HI : . TS : . DDD_HI_percent : 52.4 ACMG : . ExAC_cnvZ : -0.313290653611826 ExAC_delZ : -1.46882857123298 ExAC_dupZ : 0.669080902512314 ExAC_synZ : 3.05967055109539 ExAC_misZ : 3.93024751544471 GenCC_disease : cardiomyopathy, dilated, 2E; dilated cardiomyopathy; hypertrophic cardiomyopathy; hypertrophic cardiomyopathy 17 GenCC_moi : AD; sD GenCC_classification : Limited; Moderate; Strong GenCC_pmid : 17509612; 22389502; 23973696; 24001019; 26573135; 26869393; 27471098; 28393127; 28798025; 29121657; 29540472; 30235249; 30384889; 30681346; 30847666; 31227780; 31918855; 32368696; 32870709; 32879264; 32880476; 33500567; 33673806; 34036930 NCBI_gene_ID : 57158 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_006723833 Tx_version : 5 Tx_start : 44170756 Tx_end : 44187188 Exon_count : 2 Overlapped_tx_length : 16432 Overlapped_CDS_length : 444 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 44170756 Intersect_end : 44187188 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
20:44176817-44187188P_loss_coord : 20:44176817-44187188 P_loss_source : morbid:JPH2 P_loss_phen : Cardiomyopathy, dilated, 2E, 619492 (3) AR; Cardiomyopathy, hypertrophic, 17, 613873 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
5ACMG_class : 5 AnnotSV_ranking_score : 1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 27480 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
20:34457371-34457494P_loss_coord : 20:34457371-34457494 P_loss_source : dbVar:nssv16212361 P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:ITCH; dbVar:nssv18787805 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34430188-34511773; 20:34457086-34462130 po_P_loss_percent : 0.18; 0.89; 0.81; 33.68; 12.65 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:34442920-34443326 dbVar po_B_loss_someG_coord : chr20:34434642-34434748 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:34430081-34430311 Repeat_type_left : MIR Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:34457677-34457979 Repeat_type_right : AluJr Gap_right : . GC_content_right : 0.450 |
|||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 27480 |
splitAnnotation_mode : split |
ITCHGene_name : ITCH; LOEUF_bin : 0 GnomAD_pLI : 9.9997e-01 ExAC_pLI : 9.9999e-01 HI : 30 TS : . DDD_HI_percent : 7.04 ACMG : . ExAC_cnvZ : -0.993700958436598 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.49058274027449 ExAC_synZ : -1.56486117105794 ExAC_misZ : 3.00006147306749 GenCC_disease : syndromic multisystem autoimmune disease due to ITCH deficiency GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 17095521; 20170897; 20170897[PMID] NCBI_gene_ID : 83737 |
exon1-intron7Location : exon1-intron7 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : XM_047440536 Tx_version : 1 Tx_start : 34430187 Tx_end : 34511773 Exon_count : 19 Overlapped_tx_length : 27480 Overlapped_CDS_length : 785 Overlapped_CDS_percent : 37 Frameshift : yes Dist_nearest_SS : 94 Nearest_SS_type : 5' Intersect_start : 34430243 Intersect_end : 34457723 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
20:34457371-34457494P_loss_coord : 20:34457371-34457494 P_loss_source : dbVar:nssv16212361 P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
5ACMG_class : 5 AnnotSV_ranking_score : 1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 69645 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=[...]RE_gene : GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=EA_enhancer); |
20:34457371-34457494P_loss_coord : 20:34457371-34457494 P_loss_source : dbVar:nssv16212361 P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:ITCH; dbVar:nssv18787805 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34430188-34511773; 20:34457086-34462130 po_P_loss_percent : 0.45; 2.25; 2.05; 35.69; 44.02 |
2P_snvindel_nb : 2 P_snvindel_phen : Syndromic_multisystem_autoimmune_disease_due_to_ITCH_deficiency |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:34415351-34416207 dbVar; chr20:34424649-34429161 dbVar; chr20:34442920-34443326 dbVar po_B_loss_someG_coord : chr20:34400045-34400798 dbVar; chr20:34415376-34416176 dbVar; chr20:34434642-34434748 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:34389566-34389871 Repeat_type_left : LTR47A2 Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:34459015-34459609 Repeat_type_right : MER77B Gap_right : . GC_content_right : 0.475 |
|||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 69645 |
splitAnnotation_mode : split |
ITCHGene_name : ITCH; LOEUF_bin : 0 GnomAD_pLI : 9.9997e-01 ExAC_pLI : 9.9999e-01 HI : 30 TS : . DDD_HI_percent : 7.04 ACMG : . ExAC_cnvZ : -0.993700958436598 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.49058274027449 ExAC_synZ : -1.56486117105794 ExAC_misZ : 3.00006147306749 GenCC_disease : syndromic multisystem autoimmune disease due to ITCH deficiency GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 17095521; 20170897; 20170897[PMID] NCBI_gene_ID : 83737 |
intron2-intron14Location : intron2-intron14 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : XM_047440538 Tx_version : 1 Tx_start : 34363272 Tx_end : 34479722 Exon_count : 19 Overlapped_tx_length : 69645 Overlapped_CDS_length : 1418 Overlapped_CDS_percent : 79 Frameshift : yes Dist_nearest_SS : 1832 Nearest_SS_type : 5' Intersect_start : 34389661 Intersect_end : 34459306 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
20:34457371-34457494P_loss_coord : 20:34457371-34457494 P_loss_source : dbVar:nssv16212361 P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Syndromic_multisystem_autoimmune_disease_due_to_ITCH_deficiency |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
5ACMG_class : 5 AnnotSV_ranking_score : 1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 17308 Gene_count : 1 |
fullAnnotation_mode : full |
PLCB1Gene_name : PLCB1; LOEUF_bin : 1 GnomAD_pLI : 9.8337e-01 ExAC_pLI : 9.7904e-01 HI : . TS : . DDD_HI_percent : 5.05 ExAC_cnvZ : 0.410034214879466 ExAC_delZ : 0.652786134947331 ExAC_dupZ : 0.1913284319561 ExAC_synZ : -0.625866716629295 ExAC_misZ : 4.06694209941022 Closest_left : LOC105372521 Closest_right : RNU105B |
.Location : . CytoBand : p12.3 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
20:8716245-8717868P_loss_coord : 20:8716245-8717868 P_loss_source : dbVar:nssv18786686 P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Developmental and epileptic encephalopathy 12, 613722 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; morbid:PLCB1; dbVar:nssv15771903; dbVar:nssv16208567; dbVar:nssv17970840 po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8132266-8884900; 20:8532320-8811705; 20:8591050-22108012; 20:8658519-8717868 po_P_loss_percent : 0.12; 0.20; 0.21; 0.26; 0.50; 2.30; 6.20; 0.13; 21.60 |
1P_snvindel_nb : 1 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:8710327-8710437 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:8704737-8705187 Repeat_type_left : MLT2B1 Gap_left : . GC_content_left : 0.440 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.375 |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 17308 |
splitAnnotation_mode : split |
PLCB1Gene_name : PLCB1; LOEUF_bin : 1 GnomAD_pLI : 9.8337e-01 ExAC_pLI : 9.7904e-01 HI : 30 TS : 0 DDD_HI_percent : 5.05 ACMG : . ExAC_cnvZ : 0.410034214879466 ExAC_delZ : 0.652786134947331 ExAC_dupZ : 0.1913284319561 ExAC_synZ : -0.625866716629295 ExAC_misZ : 4.06694209941022 GenCC_disease : West syndrome; developmental and epileptic encephalopathy; developmental and epileptic encephalopathy, 12; malignant migrating partial seizures of infancy GenCC_moi : AD; AR GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 20833646; 20833646[PMID]_22196487[PMID]; 22690784; 22690784[PMID]; 24684524 NCBI_gene_ID : 23236 |
intron11-exon15Location : intron11-exon15 CytoBand : p12.3 Location2 : CDS Tx : NM_015192 Tx_version : 4 Tx_start : 8132265 Tx_end : 8884900 Exon_count : 32 Overlapped_tx_length : 17308 Overlapped_CDS_length : 352 Overlapped_CDS_percent : 9 Frameshift : yes Dist_nearest_SS : 6 Nearest_SS_type : 3' Intersect_start : 8705051 Intersect_end : 8722359 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
20:8716245-8717868P_loss_coord : 20:8716245-8717868 P_loss_source : dbVar:nssv18786686 P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
5ACMG_class : 5 AnnotSV_ranking_score : 1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_gain_source, +1.00): Complete overlap; the known pathogenic gain SV is fully contained within the observed copy-number gain. 2I-3 (ZNF341, +0.00): NA 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 29498 Gene_count : 1 |
fullAnnotation_mode : full |
ZNF341Gene_name : ZNF341; LOEUF_bin : 3 GnomAD_pLI : 2.4063e-06 ExAC_pLI : 1.2419e-01 HI : . TS : . DDD_HI_percent : 48.05 ExAC_cnvZ : -1.80503660369897 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.520281061391948 ExAC_synZ : -0.656830897300228 ExAC_misZ : 0.699352069531651 Closest_left : LOC124904890 Closest_right : ZNF341-AS1 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
20:33745084-33749092P_gain_coord : 20:33745084-33749092 P_gain_source : dbVar:nssv18787892 P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.05; 0.05; 0.05; 0.05; 0.05; 0.10; 0.18; 0.30; 0.20; 0.45; 0.59; 0.57; 0.77 |
6P_snvindel_nb : 6 P_snvindel_phen : Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:33759475-33761539 dbVar po_B_gain_someG_coord : 20:33747323-33747643 1000g |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33734709-33735005 Repeat_type_left : AluSz Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33764021-33764326; 20:33764396-33764476 Repeat_type_right : AluY; MER33 Gap_right : . GC_content_right : 0.310 |
||
full=5ACMG_class : full=5 |
DUPSV_type : DUP SV_length : 29498 |
splitAnnotation_mode : split |
ZNF341Gene_name : ZNF341; LOEUF_bin : 3 GnomAD_pLI : 2.4063e-06 ExAC_pLI : 1.2419e-01 HI : . TS : . DDD_HI_percent : 48.05 ACMG : . ExAC_cnvZ : -1.80503660369897 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.520281061391948 ExAC_synZ : -0.656830897300228 ExAC_misZ : 0.699352069531651 GenCC_disease : hyper-IgE recurrent infection syndrome 3, autosomal recessive GenCC_moi : AR GenCC_classification : Strong GenCC_pmid : 29907690; 29907691 NCBI_gene_ID : 84905 |
intron1-intron8Location : intron1-intron8 CytoBand : q11.22 Location2 : CDS Tx : NM_001282933 Tx_version : 2 Tx_start : 33731995 Tx_end : 33792269 Exon_count : 15 Overlapped_tx_length : 29498 Overlapped_CDS_length : 1191 Overlapped_CDS_percent : 46 Frameshift : no Dist_nearest_SS : 2319 Nearest_SS_type : 5' Intersect_start : 33734876 Intersect_end : 33764374 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
20:33745084-33749092P_gain_coord : 20:33745084-33749092 P_gain_source : dbVar:nssv18787892 P_gain_phen : . P_gain_hpo : . |
6P_snvindel_nb : 6 P_snvindel_phen : Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2D-4 (TOP1, +0.90): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and it includes other exons in addition to the last exon. Nonsense-mediated decay is expected to occur. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (6 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 230146 Gene_count : 6 |
fullAnnotation_mode : full |
TOP1; PLCG1-AS1; LOC124904903; PLCG1; MIR6871; [...6genes]Gene_name : TOP1; PLCG1-AS1; LOC124904903; PLCG1; MIR6871; ZHX3; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 55.23 ExAC_cnvZ : -0.75228729997678 ExAC_delZ : -2.41588703402856 ExAC_dupZ : 0.797924307808397 ExAC_synZ : 0.621284009453946 ExAC_misZ : 4.70150687382943 Closest_left : LOC105372621 Closest_right : LPIN3 |
.Location : . CytoBand : q12 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
AR (HI=3/morbid/RE=mTL_miRNA); DGAT1 (morbid/[...]RE_gene : AR (HI=3/morbid/RE=mTL_miRNA); DGAT1 (morbid/RE=mTL_miRNA); MAFB (morbid/RE=EA_enhancer); CALM3 (morbid/RE=mTL_miRNA); GLDN (morbid/RE=mTL_miRNA); CASP8 (morbid/RE=mTL_miRNA); NANOS1 (morbid/RE=mTL_miRNA); MYH9 (morbid/RE=mTL_miRNA); C8A (morbid/RE=mTL_miRNA); CNBP (morbid/RE=mTL_miRNA); GAN (morbid/RE=mTL_miRNA); KANSL1 (HI=3/morbid/RE=mTL_miRNA); COL4A1 (morbid/RE=mTL_miRNA); STAT3 (morbid/RE=mTL_miRNA); ENTPD1 (morbid/RE=mTL_miRNA); GCDH (morbid/RE=mTL_miRNA); TNFRSF13C (morbid/RE=mTL_miRNA); TPI1 (morbid/RE=mTL_miRNA); P3H1 (morbid/RE=mTL_miRNA); PABPN1 (morbid/RE=mTL_miRNA); BCL10 (morbid/RE=mTL_miRNA); COX6A1 (morbid/RE=mTL_miRNA); UBTF (morbid/RE=mTL_miRNA); PLAG1 (morbid/RE=mTL_miRNA); ALDOA (morbid/RE=mTL_miRNA); CSGALNACT1 (morbid/RE=mTL_miRNA); SETD5 (HI=3/morbid/RE=mTL_miRNA); SLC30A10 (morbid/RE=mTL_miRNA); CCDC115 (morbid/RE=mTL_miRNA); PIP5K1C (morbid/RE=mTL_miRNA); TRMU (morbid/RE=mTL_miRNA); SPRTN (morbid/RE=mTL_miRNA); PLEKHG2 (morbid/RE=mTL_miRNA); ADAR (morbid/RE=mTL_miRNA); BUB1 (morbid/RE=mTL_miRNA); CTC1 (morbid/RE=mTL_miRNA); PEX26 (morbid/RE=mTL_miRNA); DPH2 (morbid/RE=mTL_miRNA); IDS (HI=3/morbid/RE=mTL_miRNA); BACH1 (morbid/RE=mTL_miRNA); GIPC1 (morbid/RE=mTL_miRNA); KMT2A (HI=3/morbid/RE=mTL_miRNA); CYB561 (morbid/RE=mTL_miRNA); ATF6 (morbid/RE=mTL_miRNA); KCNB1 (morbid/RE=mTL_miRNA); EIF4A3 (morbid/RE=mTL_miRNA); NCKAP1 (HI=3/RE=mTL_miRNA); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : DNA topoisomerase I, camptothecin-resistant (3) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:TOP1 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:41028822-41124487 po_P_loss_percent : 1.49; 1.86; 1.95; 50.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:41097670-41103447 dbVar; chr20:41115509-41115588 dbVar; chr20:41148367-41149390 dbVar; chr20:41165675-41190093 dbVar; chr20:41185096-41189714 dbVar; chr20:41197210-41197248 HPRC:pbsv.DEL.3161; chr20:41226135-41240061 dbVar; chr20:41253857-41258070 dbVar; chr20:41257715-41258003 HPRC:pbsv.DEL.3163; 20:41257716-41258003 esv2673884; chr20:41277500-41278845 gnomAD-SV_v3_DEL_chr20_ae0ff7d8; chr20:41277590-41278770 dbVar; chr20:41277677-41278858 HPRC:pbsv.DEL.3164; 20:41277706-41278888 1000g; 20:41277708-41278887 DDD:54800; chr20:41296232-41296253 HPRC:pbsv.DEL.3166 po_B_loss_someG_coord : chr20:41090330-41090396 dbVar; chr20:41099671-41099843 dbVar; chr20:41132666-41132785 dbVar; 20:41159951-41159994 DDD:54795; chr20:41184283-41184388 dbVar; chr20:41196370-41196563 dbVar; chr20:41218145-41218247 dbVar; chr20:41253847-41258073 dbVar; 20:41257715-41258003 CMRI:11_pbsv.DEL.1024_duplicate9; chr20:41257715-41258003 dbVar; 20:41277356-41279252 dgv786e199; 20:41277548-41279015 IMH; 20:41277677-41278858 CMRI:1_pbsv.DEL.513_duplicate7; chr20:41277705-41278888 dbVar; 20:41277706-41278888 esv3645835; chr20:41295832-41302060 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.380 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.385 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 230146 |
splitAnnotation_mode : split |
PLCG1Gene_name : PLCG1; LOEUF_bin : 1 GnomAD_pLI : 7.9288e-05 ExAC_pLI : 7.6335e-01 HI : . TS : . DDD_HI_percent : 4.71 ACMG : . ExAC_cnvZ : -0.75228729997678 ExAC_delZ : -2.55255615733146 ExAC_dupZ : 0.797924307808397 ExAC_synZ : 0.403846604738862 ExAC_misZ : 4.60671010397037 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5335 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : XM_005260438 Tx_version : 3 Tx_start : 41137542 Tx_end : 41177626 Exon_count : 31 Overlapped_tx_length : 40084 Overlapped_CDS_length : 3993 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 41137542 Intersect_end : 41177626 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 230146 |
splitAnnotation_mode : split |
ZHX3Gene_name : ZHX3; LOEUF_bin : 2 GnomAD_pLI : 5.0815e-02 ExAC_pLI : 3.5442e-01 HI : . TS : . DDD_HI_percent : 55.23 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.621284009453946 ExAC_misZ : 0.818886261199518 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23051 |
intron1-txEndLocation : intron1-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001384325 Tx_version : 1 Tx_start : 41178454 Tx_end : 41317731 Exon_count : 5 Overlapped_tx_length : 128300 Overlapped_CDS_length : 2910 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : 10754 Nearest_SS_type : 5' Intersect_start : 41178454 Intersect_end : 41306754 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 230146 |
splitAnnotation_mode : split |
TOP1Gene_name : TOP1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 1.64 ACMG : . ExAC_cnvZ : -1.41151623617141 ExAC_delZ : -2.41588703402856 ExAC_dupZ : -0.836816505234408 ExAC_synZ : 0.425865658646613 ExAC_misZ : 4.70150687382943 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7150 |
intron4-txEndLocation : intron4-txEnd CytoBand : q12 Location2 : CDS-3'UTR Tx : NM_003286 Tx_version : 4 Tx_start : 41028821 Tx_end : 41124487 Exon_count : 21 Overlapped_tx_length : 47879 Overlapped_CDS_length : 2019 Overlapped_CDS_percent : 87 Frameshift : no Dist_nearest_SS : 314 Nearest_SS_type : 5' Intersect_start : 41076608 Intersect_end : 41124487 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 230146 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_106931 Tx_version : 1 Tx_start : 41169022 Tx_end : 41169078 Exon_count : 1 Overlapped_tx_length : 56 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 41169022 Intersect_end : 41169078 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:41165675-41190093 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 230146 |
splitAnnotation_mode : split |
LOC124904903Gene_name : LOC124904903; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : XM_047440629 Tx_version : 1 Tx_start : 41133842 Tx_end : 41137513 Exon_count : 2 Overlapped_tx_length : 3671 Overlapped_CDS_length : 582 Overlapped_CDS_percent : 76 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 41133842 Intersect_end : 41137513 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 230146 |
splitAnnotation_mode : split |
PLCG1-AS1Gene_name : PLCG1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927117 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_109889 Tx_version : 1 Tx_start : 41097993 Tx_end : 41138000 Exon_count : 7 Overlapped_tx_length : 40007 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 41097993 Intersect_end : 41138000 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2C-1 (NFS1, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (4 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 24200 Gene_count : 4 |
fullAnnotation_mode : full |
NFS1; ROMO1; RBM39; LOC124904980; [...4genes]Gene_name : NFS1; ROMO1; RBM39; LOC124904980; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 16.38 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.23842297557016 ExAC_synZ : 1.38318761602961 ExAC_misZ : 4.74208284095117 Closest_left : RBM12 Closest_right : PHF20 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536; morbid:NFS1 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837; 20:35668052-35699352 po_P_loss_percent : 0.16; 0.18; 0.71; 0.20; 5.27; 18.46 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:35702959-35703024 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35693547-35693681 Repeat_type_left : AluJo Gap_left : . GC_content_left : 0.450 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35717708-35717862; 20:35717864-35718158 Repeat_type_right : AluJb; AluY Gap_right : . GC_content_right : 0.465 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 24200 |
splitAnnotation_mode : split |
NFS1Gene_name : NFS1; LOEUF_bin : 2 GnomAD_pLI : 5.5351e-02 ExAC_pLI : 8.3212e-01 HI : . TS : . DDD_HI_percent : 16.38 ACMG : . ExAC_cnvZ : -1.32339341252377 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21816840287075 ExAC_synZ : -0.588478731156264 ExAC_misZ : 1.53876878093165 GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206 NCBI_gene_ID : 9054 |
txStart-intron4Location : txStart-intron4 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_001198989 Tx_version : 2 Tx_start : 35668051 Tx_end : 35699352 Exon_count : 12 Overlapped_tx_length : 5777 Overlapped_CDS_length : 408 Overlapped_CDS_percent : 33 Frameshift : no Dist_nearest_SS : 2801 Nearest_SS_type : 5' Intersect_start : 35693575 Intersect_end : 35699352 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 24200 |
splitAnnotation_mode : split |
ROMO1Gene_name : ROMO1; LOEUF_bin : 7 GnomAD_pLI : 2.3400e-01 ExAC_pLI : 7.2681e-01 HI : . TS : . DDD_HI_percent : 11.99 ACMG : . ExAC_cnvZ : -1.29962656319736 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.23842297557016 ExAC_synZ : 1.38318761602961 ExAC_misZ : 1.67828870198139 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140823 |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.22 Location2 : 5'UTR-3'UTR Tx : NM_080748 Tx_version : 3 Tx_start : 35699404 Tx_end : 35700980 Exon_count : 3 Overlapped_tx_length : 1576 Overlapped_CDS_length : 240 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 35699404 Intersect_end : 35700980 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 24200 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
intron9-txEndLocation : intron9-txEnd CytoBand : q11.22 Location2 : CDS-3'UTR Tx : XM_006723891 Tx_version : 5 Tx_start : 35701346 Tx_end : 35740892 Exon_count : 17 Overlapped_tx_length : 16429 Overlapped_CDS_length : 768 Overlapped_CDS_percent : 68 Frameshift : no Dist_nearest_SS : 970 Nearest_SS_type : 3' Intersect_start : 35701346 Intersect_end : 35717775 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 24200 |
splitAnnotation_mode : split |
LOC124904980Gene_name : LOC124904980; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.22 Location2 : UTR Tx : XR_007067771 Tx_version : 1 Tx_start : 35716470 Tx_end : 35716570 Exon_count : 1 Overlapped_tx_length : 100 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 35716470 Intersect_end : 35716570 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2C-1 (CRLS1, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (4 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 70138 Gene_count : 4 |
fullAnnotation_mode : full |
TRMT6; MCM8; MCM8-AS1; CRLS1; [...4genes]Gene_name : TRMT6; MCM8; MCM8-AS1; CRLS1; LOEUF_bin : 4 GnomAD_pLI : 3.1076e-03 ExAC_pLI : 3.3508e-02 HI : . TS : . DDD_HI_percent : 35.79 ExAC_cnvZ : 1.01754506009196 ExAC_delZ : 0.650584181385956 ExAC_dupZ : 0.973808958628458 ExAC_synZ : 0.488280520880372 ExAC_misZ : 0.968408915204078 Closest_left : CHGB Closest_right : LRRN4 |
.Location : . CytoBand : p12.3 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
FERMT1 (morbid/RE=EA_enhancer); RE_gene : FERMT1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Combined oxidative phosphorylation deficiency 57, 620167 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857; morbid:CRLS1 po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370; 20:6007249-6040053 po_P_loss_percent : 1.23; 0.50; 0.81; 2.73; 0.85; 60.97; 32.68 |
4P_snvindel_nb : 4 P_snvindel_phen : Premature_ovarian_failure_10 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:5962322-5962503 dbVar; chr20:5962341-5962670 HPRC:pbsv.DEL.591; 20:5962342-5962670 1000g; chr20:5962354-5962670 dbVar; chr20:5968621-5971012 dbVar; chr20:6010093-6010812 dbVar po_B_loss_someG_coord : chr20:5962254-5962352 gnomAD-SV_v3_DEL_chr20_9f6fc67f; 20:5962341-5962670 CMRI:3_pbsv.DEL.150_duplicate6; chr20:5962341-5962670 dbVar; chr20:5962342-5962670 dbVar; chr20:5962354-5962670 gnomAD-SV_v3_DEL_chr20_7e191f80; chr20:6008123-6008149 HPRC:pbsv.DEL.593 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:5947774-5947980 Repeat_type_left : AluJb Gap_left : . GC_content_left : 0.495 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:6017516-6017935; 20:6017936-6018237 Repeat_type_right : L1MEg; AluSz6 Gap_right : . GC_content_right : 0.440 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 70138 |
splitAnnotation_mode : split |
CRLS1Gene_name : CRLS1; LOEUF_bin : 5 GnomAD_pLI : 3.1076e-03 ExAC_pLI : 3.3508e-02 HI : . TS : . DDD_HI_percent : 35.79 ACMG : . ExAC_cnvZ : 0.766326073232298 ExAC_delZ : 0.634248000685519 ExAC_dupZ : 0.544642995721259 ExAC_synZ : 0.488280520880372 ExAC_misZ : -0.0103810121795492 GenCC_disease : combined oxidative phosphorylation deficiency 57 GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 35147173 NCBI_gene_ID : 54675 |
txStart-intron3Location : txStart-intron3 CytoBand : p12.3 Location2 : 5'UTR-CDS Tx : XM_011529263 Tx_version : 3 Tx_start : 6006122 Tx_end : 6031370 Exon_count : 5 Overlapped_tx_length : 11846 Overlapped_CDS_length : 574 Overlapped_CDS_percent : 98 Frameshift : yes Dist_nearest_SS : 2478 Nearest_SS_type : 5' Intersect_start : 6006122 Intersect_end : 6017968 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 70138 |
splitAnnotation_mode : split |
TRMT6Gene_name : TRMT6; LOEUF_bin : 4 GnomAD_pLI : 2.4031e-05 ExAC_pLI : 4.9253e-04 HI : . TS : . DDD_HI_percent : 32.62 ACMG : . ExAC_cnvZ : 1.01754506009196 ExAC_delZ : 0.650584181385956 ExAC_dupZ : 0.973808958628458 ExAC_synZ : -0.868768220033901 ExAC_misZ : 0.968408915204078 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51605 |
txStart-intron1Location : txStart-intron1 CytoBand : p12.3 Location2 : 5'UTR-CDS Tx : NM_015939 Tx_version : 5 Tx_start : 5937227 Tx_end : 5950533 Exon_count : 11 Overlapped_tx_length : 2703 Overlapped_CDS_length : 128 Overlapped_CDS_percent : 8 Frameshift : yes Dist_nearest_SS : 1297 Nearest_SS_type : 3' Intersect_start : 5947830 Intersect_end : 5950533 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 70138 |
splitAnnotation_mode : split |
MCM8Gene_name : MCM8; LOEUF_bin : 5 GnomAD_pLI : 1.0536e-16 ExAC_pLI : 1.9289e-10 HI : . TS : . DDD_HI_percent : 0.31 ACMG : . ExAC_cnvZ : 0.670689793926319 ExAC_delZ : 0.0652954789617851 ExAC_dupZ : 0.894892763763837 ExAC_synZ : -0.951232916035886 ExAC_misZ : -0.0604974802456897 GenCC_disease : premature ovarian failure 10 GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 22771120; 251316; 251370; 25437880; 25873734; 27573988; 27802094; 282878; 28863940; 31042289 NCBI_gene_ID : 84515 |
txStart-txEndLocation : txStart-txEnd CytoBand : p12.3 Location2 : 5'UTR-3'UTR Tx : NM_001281521 Tx_version : 2 Tx_start : 5950651 Tx_end : 5998977 Exon_count : 19 Overlapped_tx_length : 48326 Overlapped_CDS_length : 2643 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 5950651 Intersect_end : 5998977 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
4P_snvindel_nb : 4 P_snvindel_phen : Premature_ovarian_failure_10 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 70138 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p12.3 Location2 : UTR Tx : NR_110101 Tx_version : 1 Tx_start : 5990794 Tx_end : 6005821 Exon_count : 5 Overlapped_tx_length : 15027 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 5990794 Intersect_end : 6005821 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2C-1 (TOP1, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (3 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 166231 Gene_count : 3 |
fullAnnotation_mode : full |
LOC100128988; LOC105372621; TOP1; [...3genes]Gene_name : LOC100128988; LOC105372621; TOP1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 1.64 ExAC_cnvZ : -1.41151623617141 ExAC_delZ : -2.41588703402856 ExAC_dupZ : -0.836816505234408 ExAC_synZ : 0.425865658646613 ExAC_misZ : 4.70150687382943 Closest_left : SNORD154 Closest_right : PLCG1-AS1 |
.Location : . CytoBand : q12 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
MAFB (morbid/RE=EA_enhancer); RE_gene : MAFB (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : DNA topoisomerase I, camptothecin-resistant (3) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:TOP1 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:41028822-41124487 po_P_loss_percent : 1.08; 1.34; 1.41; 50.47 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:40944561-40944635 dbVar; chr20:40973902-40975350 dbVar; chr20:40982032-40983341 dbVar; 20:40982733-40982821 CMRI:75_pbsv.DEL.556_duplicate8; chr20:41012469-41013174 dbVar; chr20:41033196-41033868 dbVar; chr20:41064669-41065119 dbVar po_B_loss_someG_coord : chr20:40900119-40913267 dbVar; chr20:40972294-40975870 dbVar; 20:40973939-40975343 DDD:54794; chr20:40982733-40982777 HPRC:pbsv.DEL.3151; chr20:40983311-40983438 dbVar; chr20:41031792-41031850 dbVar; chr20:41049146-41049213 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40909467-40911035 Repeat_type_left : LTR12C Gap_left : . GC_content_left : 0.690 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:41077092-41077219 Repeat_type_right : AluJr Gap_right : . GC_content_right : 0.460 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 166231 |
splitAnnotation_mode : split |
TOP1Gene_name : TOP1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 1.64 ACMG : . ExAC_cnvZ : -1.41151623617141 ExAC_delZ : -2.41588703402856 ExAC_dupZ : -0.836816505234408 ExAC_synZ : 0.425865658646613 ExAC_misZ : 4.70150687382943 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7150 |
txStart-intron4Location : txStart-intron4 CytoBand : q12 Location2 : 5'UTR-CDS Tx : NM_003286 Tx_version : 4 Tx_start : 41028821 Tx_end : 41124487 Exon_count : 21 Overlapped_tx_length : 48287 Overlapped_CDS_length : 279 Overlapped_CDS_percent : 12 Frameshift : no Dist_nearest_SS : 473 Nearest_SS_type : 3' Intersect_start : 41028821 Intersect_end : 41077108 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 166231 |
splitAnnotation_mode : split |
LOC100128988Gene_name : LOC100128988; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_145524 Tx_version : 1 Tx_start : 40980712 Tx_end : 41025396 Exon_count : 4 Overlapped_tx_length : 44684 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40980712 Intersect_end : 41025396 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 166231 |
splitAnnotation_mode : split |
LOC105372621Gene_name : LOC105372621; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007067586 Tx_version : 1 Tx_start : 40995613 Tx_end : 41005474 Exon_count : 3 Overlapped_tx_length : 9861 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40995613 Intersect_end : 41005474 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2C-1 (MGME1, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved 3A (3 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 48838 Gene_count : 3 |
fullAnnotation_mode : full |
SNX5; SNORD17; MGME1; [...3genes]Gene_name : SNX5; SNORD17; MGME1; LOEUF_bin : 3 GnomAD_pLI : 1.8470e-03 ExAC_pLI : 4.4985e-01 HI : . TS : . DDD_HI_percent : 62.64 ExAC_cnvZ : -0.502417798572943 ExAC_delZ : 1.07692607938418 ExAC_dupZ : -1.11407915836442 ExAC_synZ : 0.41220171509651 ExAC_misZ : -0.603875196135961 Closest_left : LOC105372548 Closest_right : OVOL2 |
.Location : . CytoBand : p11.23 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
BFSP1 (morbid/RE=EA_enhancer); OVOL2 (morbid/[...]RE_gene : BFSP1 (morbid/RE=EA_enhancer); OVOL2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Mitochondrial DNA depletion syndrome 11, 615084 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv18787965; dbVar:nssv15134157; morbid:MGME1 po_P_loss_coord : 20:8591050-22108012; 20:17607038-18187459; 20:17772772-21426789; 20:17969018-17991122 po_P_loss_percent : 0.36; 8.41; 1.34; 10.46 |
4P_snvindel_nb : 4 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:17922287-17922720 Repeat_type_left : MLT2B1 Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.360 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 48838 |
splitAnnotation_mode : split |
MGME1Gene_name : MGME1; LOEUF_bin : 4 GnomAD_pLI : 1.8470e-03 ExAC_pLI : 3.6143e-03 HI : . TS : . DDD_HI_percent : 62.64 ACMG : . ExAC_cnvZ : -0.823195089307656 ExAC_delZ : 0.470980305649987 ExAC_dupZ : -1.27504941206371 ExAC_synZ : 0.41220171509651 ExAC_misZ : -0.815237074168318 GenCC_disease : mitochondrial DNA depletion syndrome 11 GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 23313956; 23313956[PMID]; 25058219; 28097321; 28594148; 28711739 NCBI_gene_ID : 92667 |
txStart-intron2Location : txStart-intron2 CytoBand : p11.23 Location2 : 5'UTR-CDS Tx : XM_017028128 Tx_version : 2 Tx_start : 17968589 Tx_end : 17991122 Exon_count : 5 Overlapped_tx_length : 2741 Overlapped_CDS_length : 511 Overlapped_CDS_percent : 49 Frameshift : yes Dist_nearest_SS : 960 Nearest_SS_type : 5' Intersect_start : 17968589 Intersect_end : 17971330 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
4P_snvindel_nb : 4 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 48838 |
splitAnnotation_mode : split |
SNX5Gene_name : SNX5; LOEUF_bin : 3 GnomAD_pLI : 1.4460e-03 ExAC_pLI : 4.4985e-01 HI : . TS : . DDD_HI_percent : 51.1 ACMG : . ExAC_cnvZ : -0.502417798572943 ExAC_delZ : 1.07692607938418 ExAC_dupZ : -1.11407915836442 ExAC_synZ : -0.902157362149564 ExAC_misZ : -0.603875196135961 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 27131 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.23 Location2 : 5'UTR-3'UTR Tx : NM_014426 Tx_version : 4 Tx_start : 17941599 Tx_end : 17968794 Exon_count : 13 Overlapped_tx_length : 27195 Overlapped_CDS_length : 1215 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 17941599 Intersect_end : 17968794 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 48838 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.23 Location2 : UTR Tx : NR_003045 Tx_version : 1 Tx_start : 17962709 Tx_end : 17962946 Exon_count : 1 Overlapped_tx_length : 237 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 17962709 Intersect_end : 17962946 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2C-1 (CRLS1, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (3 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 51494 Gene_count : 3 |
fullAnnotation_mode : full |
MCM8; MCM8-AS1; CRLS1; [...3genes]Gene_name : MCM8; MCM8-AS1; CRLS1; LOEUF_bin : 5 GnomAD_pLI : 3.1076e-03 ExAC_pLI : 3.3508e-02 HI : . TS : . DDD_HI_percent : 35.79 ExAC_cnvZ : 0.766326073232298 ExAC_delZ : 0.634248000685519 ExAC_dupZ : 0.894892763763837 ExAC_synZ : 0.488280520880372 ExAC_misZ : -0.0103810121795492 Closest_left : TRMT6 Closest_right : LRRN4 |
.Location : . CytoBand : p12.3 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
FERMT1 (morbid/RE=EA_enhancer); RE_gene : FERMT1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Combined oxidative phosphorylation deficiency 57, 620167 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857; morbid:CRLS1 po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370; 20:6007249-6040053 po_P_loss_percent : 0.90; 0.37; 0.59; 2.00; 0.62; 44.76; 24.72 |
2P_snvindel_nb : 2 P_snvindel_phen : Premature_ovarian_failure_10 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:6008123-6008149 HPRC:pbsv.DEL.593; po_B_loss_someG_coord : chr20:5968621-5971012 dbVar; chr20:6010093-6010812 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:5963523-5963835 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.310 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 51494 |
splitAnnotation_mode : split |
CRLS1Gene_name : CRLS1; LOEUF_bin : 5 GnomAD_pLI : 3.1076e-03 ExAC_pLI : 3.3508e-02 HI : . TS : . DDD_HI_percent : 35.79 ACMG : . ExAC_cnvZ : 0.766326073232298 ExAC_delZ : 0.634248000685519 ExAC_dupZ : 0.544642995721259 ExAC_synZ : 0.488280520880372 ExAC_misZ : -0.0103810121795492 GenCC_disease : combined oxidative phosphorylation deficiency 57 GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 35147173 NCBI_gene_ID : 54675 |
txStart-intron2Location : txStart-intron2 CytoBand : p12.3 Location2 : 5'UTR-CDS Tx : XM_047440225 Tx_version : 1 Tx_start : 6006122 Tx_end : 6031366 Exon_count : 3 Overlapped_tx_length : 9236 Overlapped_CDS_length : 444 Overlapped_CDS_percent : 96 Frameshift : no Dist_nearest_SS : 5446 Nearest_SS_type : 5' Intersect_start : 6006122 Intersect_end : 6015358 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 51494 |
splitAnnotation_mode : split |
MCM8Gene_name : MCM8; LOEUF_bin : 5 GnomAD_pLI : 1.0536e-16 ExAC_pLI : 1.9289e-10 HI : . TS : . DDD_HI_percent : 0.31 ACMG : . ExAC_cnvZ : 0.670689793926319 ExAC_delZ : 0.0652954789617851 ExAC_dupZ : 0.894892763763837 ExAC_synZ : -0.951232916035886 ExAC_misZ : -0.0604974802456897 GenCC_disease : premature ovarian failure 10 GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 22771120; 251316; 251370; 25437880; 25873734; 27573988; 27802094; 282878; 28863940; 31042289 NCBI_gene_ID : 84515 |
intron8-txEndLocation : intron8-txEnd CytoBand : p12.3 Location2 : CDS-3'UTR Tx : NM_001281521 Tx_version : 2 Tx_start : 5950651 Tx_end : 5998977 Exon_count : 19 Overlapped_tx_length : 35113 Overlapped_CDS_length : 1768 Overlapped_CDS_percent : 66 Frameshift : yes Dist_nearest_SS : 505 Nearest_SS_type : 5' Intersect_start : 5963864 Intersect_end : 5998977 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Premature_ovarian_failure_10 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 51494 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p12.3 Location2 : UTR Tx : NR_110101 Tx_version : 1 Tx_start : 5990794 Tx_end : 6005821 Exon_count : 5 Overlapped_tx_length : 15027 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 5990794 Intersect_end : 6005821 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2D-4 (VAPB, +0.90): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and it includes other exons in addition to the last exon. Nonsense-mediated decay is expected to occur. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 57130 Gene_count : 2 |
fullAnnotation_mode : full |
VAPB; APCDD1L; [...2genes]Gene_name : VAPB; APCDD1L; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 75.86 ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.889461460184267 Closest_left : RAB22A Closest_right : APCDD1L-DT |
.Location : . CytoBand : q13.32 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248; morbid:VAPB po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101 po_P_loss_percent : 2.22; 17.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:58462126-58462578 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58497390-58497777 Repeat_type_right : MLT1B Gap_right : . GC_content_right : 0.490 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 57130 |
splitAnnotation_mode : split |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ACMG : . ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029 NCBI_gene_ID : 9217 |
intron4-txEndLocation : intron4-txEnd CytoBand : q13.32 Location2 : CDS-3'UTR Tx : NM_004738 Tx_version : 5 Tx_start : 58389228 Tx_end : 58451101 Exon_count : 6 Overlapped_tx_length : 10538 Overlapped_CDS_length : 336 Overlapped_CDS_percent : 45 Frameshift : no Dist_nearest_SS : 343 Nearest_SS_type : 3' Intersect_start : 58440563 Intersect_end : 58451101 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 57130 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron2-txEndLocation : intron2-txEnd CytoBand : q13.32 Location2 : CDS-3'UTR Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 38593 Overlapped_CDS_length : 1457 Overlapped_CDS_percent : 94 Frameshift : yes Dist_nearest_SS : 16123 Nearest_SS_type : 5' Intersect_start : 58459100 Intersect_end : 58497693 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2D-4 (VAPB, +0.90): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and it includes other exons in addition to the last exon. Nonsense-mediated decay is expected to occur. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 75775 Gene_count : 2 |
fullAnnotation_mode : full |
VAPB; APCDD1L; [...2genes]Gene_name : VAPB; APCDD1L; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 75.86 ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.889461460184267 Closest_left : RAB22A Closest_right : APCDD1L-DT |
.Location : . CytoBand : q13.32 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248; morbid:VAPB po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101 po_P_loss_percent : 2.94; 47.17 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:58462126-58462578 dbVar po_B_loss_someG_coord : chr20:58427882-58427920 HPRC:pbsv.DEL.4470 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58497390-58497777 Repeat_type_right : MLT1B Gap_right : . GC_content_right : 0.490 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 75775 |
splitAnnotation_mode : split |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ACMG : . ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029 NCBI_gene_ID : 9217 |
intron2-txEndLocation : intron2-txEnd CytoBand : q13.32 Location2 : CDS-3'UTR Tx : NM_004738 Tx_version : 5 Tx_start : 58389228 Tx_end : 58451101 Exon_count : 6 Overlapped_tx_length : 29183 Overlapped_CDS_length : 521 Overlapped_CDS_percent : 71 Frameshift : yes Dist_nearest_SS : 3555 Nearest_SS_type : 5' Intersect_start : 58421918 Intersect_end : 58451101 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 75775 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron2-txEndLocation : intron2-txEnd CytoBand : q13.32 Location2 : CDS-3'UTR Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 38593 Overlapped_CDS_length : 1457 Overlapped_CDS_percent : 94 Frameshift : yes Dist_nearest_SS : 16123 Nearest_SS_type : 5' Intersect_start : 58459100 Intersect_end : 58497693 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2C-1 (CHMP4B, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 46479 Gene_count : 2 |
fullAnnotation_mode : full |
ZNF341-AS1; CHMP4B; [...2genes]Gene_name : ZNF341-AS1; CHMP4B; LOEUF_bin : 1 GnomAD_pLI : 9.5771e-01 ExAC_pLI : 8.8159e-01 HI : . TS : . DDD_HI_percent : 14.15 ExAC_cnvZ : -0.834325021712592 ExAC_delZ : -2.08964540305183 ExAC_dupZ : 0.205502429818189 ExAC_synZ : 1.03265280308015 ExAC_misZ : 2.96408969087311 Closest_left : ZNF341 Closest_right : RALY-AS1 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
PIGU (morbid/RE=EA_enhancer); RE_gene : PIGU (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Cataract 31, multiple types, 605387 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:CHMP4B po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:33811348-33854366 po_P_loss_percent : 0.30; 1.50; 1.37; 94.13 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:33822385-33823753 dbVar; chr20:33824682-33828210 dbVar; chr20:33834529-33834891 dbVar; po_B_loss_someG_coord : chr20:33813043-33817239 dbVar; chr20:33824662-33830369 dbVar; chr20:33825559-33829019 dbVar; chr20:33843319-33845280 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33805342-33805530 Repeat_type_left : MamRep564 Gap_left : . GC_content_left : 0.450 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33851741-33851877 Repeat_type_right : L2c Gap_right : . GC_content_right : 0.465 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 46479 |
splitAnnotation_mode : split |
CHMP4BGene_name : CHMP4B; LOEUF_bin : 1 GnomAD_pLI : 9.5771e-01 ExAC_pLI : 8.8159e-01 HI : . TS : . DDD_HI_percent : 14.15 ACMG : . ExAC_cnvZ : -0.834325021712592 ExAC_delZ : -2.08964540305183 ExAC_dupZ : 0.205502429818189 ExAC_synZ : 1.03265280308015 ExAC_misZ : 2.96408969087311 GenCC_disease : cataract 31 multiple types; early-onset posterior polar cataract; early-onset posterior subcapsular cataract GenCC_moi : AD GenCC_classification : Strong; Supportive GenCC_pmid : 10909854; 17701905; 17701905[PMID]; 17701915; 30078984 NCBI_gene_ID : 128866 |
txStart-intron3Location : txStart-intron3 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_176812 Tx_version : 5 Tx_start : 33811347 Tx_end : 33854366 Exon_count : 5 Overlapped_tx_length : 40495 Overlapped_CDS_length : 483 Overlapped_CDS_percent : 71 Frameshift : no Dist_nearest_SS : 234 Nearest_SS_type : 3' Intersect_start : 33811347 Intersect_end : 33851842 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 46479 |
splitAnnotation_mode : split |
ZNF341-AS1Gene_name : ZNF341-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101929746 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : UTR Tx : NR_110623 Tx_version : 1 Tx_start : 33787372 Tx_end : 33811099 Exon_count : 4 Overlapped_tx_length : 5736 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5676 Nearest_SS_type : 5' Intersect_start : 33805363 Intersect_end : 33811099 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2C-1 (SUN5, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 16329 Gene_count : 2 |
fullAnnotation_mode : full |
SUN5; BPIFB2; [...2genes]Gene_name : SUN5; BPIFB2; LOEUF_bin : 7 GnomAD_pLI : 4.7491e-12 ExAC_pLI : 7.6888e-08 HI : . TS : . DDD_HI_percent : 83.8 ExAC_cnvZ : -0.819516557100972 ExAC_delZ : -1.68290228180418 ExAC_dupZ : 0.546602572629503 ExAC_synZ : -0.0957267407651878 ExAC_misZ : 0.208295931527153 Closest_left : LOC124904887 Closest_right : BPIFB6 |
.Location : . CytoBand : q11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
DNMT3B (morbid/RE=EA_enhancer); RE_gene : DNMT3B (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Spermatogenic failure 16, 617187 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; morbid:SUN5 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:32989156-33004433 po_P_loss_percent : 0.11; 0.53; 53.86 |
1P_snvindel_nb : 1 P_snvindel_phen : Spermatogenic_failure_16 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:33006982-33007844 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32996020-32996259 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.430 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33012542-33012710 Repeat_type_right : L3 Gap_right : . GC_content_right : 0.520 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 16329 |
splitAnnotation_mode : split |
SUN5Gene_name : SUN5; LOEUF_bin : 7 GnomAD_pLI : 7.7476e-14 ExAC_pLI : 6.5286e-11 HI : . TS : . DDD_HI_percent : 83.42 ACMG : . ExAC_cnvZ : -0.819516557100972 ExAC_delZ : -1.68290228180418 ExAC_dupZ : -0.19582509525969 ExAC_synZ : -0.0957267407651878 ExAC_misZ : 0.109640727640474 GenCC_disease : spermatogenic failure 16 GenCC_moi : AR GenCC_classification : Strong GenCC_pmid : 242362; 251278; 251404; 27640305; 282758 NCBI_gene_ID : 140732 |
txStart-intron8Location : txStart-intron8 CytoBand : q11.21 Location2 : 5'UTR-CDS Tx : XM_011528573 Tx_version : 2 Tx_start : 32983774 Tx_end : 33004433 Exon_count : 14 Overlapped_tx_length : 8228 Overlapped_CDS_length : 494 Overlapped_CDS_percent : 40 Frameshift : yes Dist_nearest_SS : 118 Nearest_SS_type : 5' Intersect_start : 32996205 Intersect_end : 33004433 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Spermatogenic_failure_16 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 16329 |
splitAnnotation_mode : split |
BPIFB2Gene_name : BPIFB2; LOEUF_bin : 7 GnomAD_pLI : 4.7491e-12 ExAC_pLI : 7.6888e-08 HI : . TS : . DDD_HI_percent : 83.8 ACMG : . ExAC_cnvZ : -1.02676080449048 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.546602572629503 ExAC_synZ : -0.223325866521947 ExAC_misZ : 0.208295931527153 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80341 |
txStart-intron3Location : txStart-intron3 CytoBand : q11.21 Location2 : 5'UTR-CDS Tx : NM_025227 Tx_version : 3 Tx_start : 33007703 Tx_end : 33023703 Exon_count : 16 Overlapped_tx_length : 4831 Overlapped_CDS_length : 203 Overlapped_CDS_percent : 14 Frameshift : yes Dist_nearest_SS : 268 Nearest_SS_type : 3' Intersect_start : 33007703 Intersect_end : 33012534 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2C-1 (SLC4A11, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 48935 Gene_count : 2 |
fullAnnotation_mode : full |
SLC4A11; DNAAF9; [...2genes]Gene_name : SLC4A11; DNAAF9; LOEUF_bin : 5 GnomAD_pLI : 4.6435e-15 ExAC_pLI : 1.3673e-08 HI : . TS : . DDD_HI_percent : 65.76 ExAC_cnvZ : -0.410334386032431 ExAC_delZ : 0.143852351231961 ExAC_dupZ : -0.670363301132967 ExAC_synZ : -0.0807870947861307 ExAC_misZ : 1.31098401962572 Closest_left : ITPA Closest_right : LOC124904983 |
.Location : . CytoBand : p13 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid[...]RE_gene : VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR; Corneal endothelial dystrophy, AR, 217700 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv16213489; morbid:SLC4A11; dbVar:nssv17172690; dbVar:nssv17172689 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735; 20:3227408-3239200; 20:3230555-3238189; 20:3233505-3239200; 20:3234559-3239200 po_P_loss_percent : 0.86; 1.92; 5.82; 0.35; 0.56; 23.74; 23.43; 49.16; 60.32 |
7P_snvindel_nb : 7 P_snvindel_phen : Corneal_dystrophy,_Fuchs_endothelial,_4 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3236581-3236601 HPRC:pbsv.DEL.347; chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318; chr20:3281257-3281315 dbVar; po_B_loss_someG_coord : chr20:3236447-3236502 dbVar; chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar; chr20:3281258-3281315 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3236331-3236581 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3285266-3285389; 20:3285399-3285695 Repeat_type_right : FLAM_C; AluSz Gap_right : . GC_content_right : 0.520 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 48935 |
splitAnnotation_mode : split |
SLC4A11Gene_name : SLC4A11; LOEUF_bin : 5 GnomAD_pLI : 4.6435e-15 ExAC_pLI : 1.3673e-08 HI : . TS : . DDD_HI_percent : 65.76 ACMG : . ExAC_cnvZ : -0.410334386032431 ExAC_delZ : 0.143852351231961 ExAC_dupZ : -0.670363301132967 ExAC_synZ : -0.0807870947861307 ExAC_misZ : 1.31098401962572 GenCC_disease : Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; corneal dystrophy, Fuchs endothelial, 4; corneal dystrophy-perceptive deafness syndrome GenCC_moi : AD; AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16767101[PMID]_24351571[PMID]; 16825429; 17220209; 17220209[PMID]_18922146[PMID]; 17262014; 17397048; 17679935; 18024964; 18474783; 20625449; 2084855; 20848555; 20848555[PMID]; 22072594; 23585771; 24502824; 24916015; 25007886; 28973083; 29327391; 31714402; 36115991 NCBI_gene_ID : 83959 |
txStart-intron2Location : txStart-intron2 CytoBand : p13 Location2 : 5'UTR-CDS Tx : XM_017028093 Tx_version : 2 Tx_start : 3227416 Tx_end : 3238189 Exon_count : 20 Overlapped_tx_length : 1789 Overlapped_CDS_length : 217 Overlapped_CDS_percent : 8 Frameshift : yes Dist_nearest_SS : 1143 Nearest_SS_type : 5' Intersect_start : 3236400 Intersect_end : 3238189 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
7P_snvindel_nb : 7 P_snvindel_phen : Corneal_dystrophy,_Fuchs_endothelial,_4 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 48935 |
splitAnnotation_mode : split |
intron8-txEndLocation : intron8-txEnd CytoBand : p13 Location2 : CDS-3'UTR Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 36030 Overlapped_CDS_length : 1048 Overlapped_CDS_percent : 58 Frameshift : yes Dist_nearest_SS : 2296 Nearest_SS_type : 5' Intersect_start : 3249305 Intersect_end : 3285335 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-1 (LAMA5, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3145 Gene_count : 1 |
fullAnnotation_mode : full |
LAMA5Gene_name : LAMA5; LOEUF_bin : 1 GnomAD_pLI : 6.4742e-03 ExAC_pLI : 9.4304e-01 HI : . TS : . DDD_HI_percent : 63.61 ExAC_cnvZ : -1.53572744678639 ExAC_delZ : -0.411115411986426 ExAC_dupZ : -1.9799993522554 ExAC_synZ : -4.33757037330041 ExAC_misZ : -2.11068945228824 Closest_left : ADRM1 Closest_right : MIR4758 |
.Location : . CytoBand : q13.33 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : ?Bent bone dysplasia syndrome 2, 620076 (3) AR; Nephrotic syndrome, type 26, 620049 (3) AR po_P_loss_hpo : . po_P_loss_source : morbid:LAMA5 po_P_loss_coord : 20:62319449-62367312 po_P_loss_percent : 6.57 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62325712-62325938; 20:62325939-62326245 Repeat_type_left : L1M5; AluSx1 Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62329092-62329141 Repeat_type_right : (CCCTGAC)n Gap_right : . GC_content_right : 0.655 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 3145 |
splitAnnotation_mode : split |
LAMA5Gene_name : LAMA5; LOEUF_bin : 1 GnomAD_pLI : 6.4742e-03 ExAC_pLI : 9.4304e-01 HI : . TS : . DDD_HI_percent : 63.61 ACMG : . ExAC_cnvZ : -1.53572744678639 ExAC_delZ : -0.411115411986426 ExAC_dupZ : -1.9799993522554 ExAC_synZ : -4.33757037330041 ExAC_misZ : -2.11068945228824 GenCC_disease : LAMA5-related multisystemic syndrome; nephrotic syndrome, IIa 26 GenCC_moi : AD; AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 201750; 280460; 28735299[PMID]; 29534211; 3515625 NCBI_gene_ID : 3911 |
intron33-intron40Location : intron33-intron40 CytoBand : q13.33 Location2 : CDS Tx : NM_005560 Tx_version : 6 Tx_start : 62309064 Tx_end : 62367312 Exon_count : 80 Overlapped_tx_length : 3145 Overlapped_CDS_length : 1063 Overlapped_CDS_percent : 9 Frameshift : yes Dist_nearest_SS : 25 Nearest_SS_type : 5' Intersect_start : 62325967 Intersect_end : 62329112 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-1 (TAF4, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 227 Gene_count : 1 |
fullAnnotation_mode : full |
TAF4Gene_name : TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 Closest_left : MIR3195 Closest_right : LOC105372705 |
.Location : . CytoBand : q13.33 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Intellectual developmental disorder, AD 73, 620450 (3) AD po_P_loss_hpo : . po_P_loss_source : morbid:TAF4 po_P_loss_coord : 20:61974798-62065881 po_P_loss_percent : 0.25 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62065250-62065329 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62065254-62065302 Repeat_type_left : (GGGCCG)n Gap_left : . GC_content_left : 0.870 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.890 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 227 |
splitAnnotation_mode : split |
TAF4Gene_name : TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ACMG : . ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6874 |
exon1-exon1Location : exon1-exon1 CytoBand : q13.33 Location2 : CDS Tx : NM_003185 Tx_version : 4 Tx_start : 61974797 Tx_end : 62065881 Exon_count : 15 Overlapped_tx_length : 227 Overlapped_CDS_length : 227 Overlapped_CDS_percent : 6 Frameshift : yes Dist_nearest_SS : 829 Nearest_SS_type : 5' Intersect_start : 62065279 Intersect_end : 62065506 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2D-4 (VAPB, +0.90): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and it includes other exons in addition to the last exon. Nonsense-mediated decay is expected to occur. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4155 Gene_count : 1 |
fullAnnotation_mode : full |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 Closest_left : RAB22A Closest_right : APCDD1L |
.Location : . CytoBand : q13.32 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248; morbid:VAPB po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101 po_P_loss_percent : 0.16; 6.72 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58441202-58441287 Repeat_type_left : Charlie24 Gap_left : . GC_content_left : 0.415 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.510 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 4155 |
splitAnnotation_mode : split |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ACMG : . ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029 NCBI_gene_ID : 9217 |
intron5-exon6Location : intron5-exon6 CytoBand : q13.32 Location2 : CDS-3'UTR Tx : NM_004738 Tx_version : 5 Tx_start : 58389228 Tx_end : 58451101 Exon_count : 6 Overlapped_tx_length : 4155 Overlapped_CDS_length : 159 Overlapped_CDS_percent : 21 Frameshift : no Dist_nearest_SS : 50 Nearest_SS_type : 5' Intersect_start : 58441133 Intersect_end : 58445288 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-1 (PTGIS, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 42536 Gene_count : 1 |
fullAnnotation_mode : full |
PTGISGene_name : PTGIS; LOEUF_bin : 6 GnomAD_pLI : 1.1970e-09 ExAC_pLI : 2.4233e-05 HI : . TS : . DDD_HI_percent : 65.68 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.636834400784232 ExAC_synZ : 0.275099413688182 ExAC_misZ : -0.751268886668729 Closest_left : KCNB1 Closest_right : LOC101927486 |
.Location : . CytoBand : q13.13 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
KCNB1 (morbid/RE=EA_enhancer); ARFGEF2 (morbi[...]RE_gene : KCNB1 (morbid/RE=EA_enhancer); ARFGEF2 (morbid/RE=EA_enhancer); ZNFX1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Hypertension, essential, 145500 (3) Multifactorial po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226; morbid:PTGIS po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110; 20:49524851-49568137 po_P_loss_percent : 0.76; 0.96; 1.93; 1.57; 87.46 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:49534478-49562489 dbVar; chr20:49539604-49540937 dbVar; chr20:49551394-49551653 dbVar po_B_loss_someG_coord : chr20:49534334-49562349 dbVar; chr20:49536612-49546953 dbVar; chr20:49545833-49545857 HPRC:pbsv.DEL.3734 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49519839-49520336 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.545 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.595 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 42536 |
splitAnnotation_mode : split |
PTGISGene_name : PTGIS; LOEUF_bin : 6 GnomAD_pLI : 1.1970e-09 ExAC_pLI : 2.4233e-05 HI : . TS : . DDD_HI_percent : 65.68 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.636834400784232 ExAC_synZ : 0.275099413688182 ExAC_misZ : -0.751268886668729 GenCC_disease : essential hypertension, genetic GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 12372404; 31453292; 32236489; 9217767 NCBI_gene_ID : 5740 |
intron1-intron6Location : intron1-intron6 CytoBand : q13.13 Location2 : CDS Tx : NM_000961 Tx_version : 4 Tx_start : 49503873 Tx_end : 49568137 Exon_count : 10 Overlapped_tx_length : 42536 Overlapped_CDS_length : 781 Overlapped_CDS_percent : 51 Frameshift : yes Dist_nearest_SS : 3883 Nearest_SS_type : 5' Intersect_start : 49520174 Intersect_end : 49562710 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-1 (IFT52, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5969 Gene_count : 1 |
fullAnnotation_mode : full |
IFT52Gene_name : IFT52; LOEUF_bin : 4 GnomAD_pLI : 2.0125e-06 ExAC_pLI : 1.6303e-04 HI : . TS : . DDD_HI_percent : 21.64 ExAC_cnvZ : -0.957267223159506 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.811247970413386 ExAC_synZ : -0.383710239968146 ExAC_misZ : 0.0585741056901821 Closest_left : SGK2 Closest_right : LOC124904906 |
.Location : . CytoBand : q13.12 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:IFT52; dbVar:nssv18788532 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43590937-43647299; 20:43594700-46010118 po_P_loss_percent : 0.04; 0.05; 0.05; 10.59; 0.25 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:43614510-43614567 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43610020-43610323 Repeat_type_left : AluSx Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:43616225-43616526 Repeat_type_right : AluSz Gap_right : . GC_content_right : 0.395 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 5969 |
splitAnnotation_mode : split |
IFT52Gene_name : IFT52; LOEUF_bin : 4 GnomAD_pLI : 2.0125e-06 ExAC_pLI : 1.6303e-04 HI : . TS : . DDD_HI_percent : 21.64 ACMG : . ExAC_cnvZ : -0.957267223159506 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.811247970413386 ExAC_synZ : -0.383710239968146 ExAC_misZ : 0.0585741056901821 GenCC_disease : cranioectodermal dysplasia; short-rib thoracic dysplasia 16 with or without polydactyly GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 15182712; 15930098; 26880018; 26880018[PMID]_27466190[PMID]; 27466190; 30242358; 31042281 NCBI_gene_ID : 51098 |
intron6-intron7Location : intron6-intron7 CytoBand : q13.12 Location2 : CDS Tx : NM_001303458 Tx_version : 3 Tx_start : 43590936 Tx_end : 43647299 Exon_count : 14 Overlapped_tx_length : 5969 Overlapped_CDS_length : 127 Overlapped_CDS_percent : 9 Frameshift : yes Dist_nearest_SS : 2211 Nearest_SS_type : 5' Intersect_start : 43610218 Intersect_end : 43616187 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-1 (IFT52, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6426 Gene_count : 1 |
fullAnnotation_mode : full |
IFT52Gene_name : IFT52; LOEUF_bin : 4 GnomAD_pLI : 2.0125e-06 ExAC_pLI : 1.6303e-04 HI : . TS : . DDD_HI_percent : 21.64 ExAC_cnvZ : -0.957267223159506 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.811247970413386 ExAC_synZ : -0.383710239968146 ExAC_misZ : 0.0585741056901821 Closest_left : SGK2 Closest_right : LOC124904906 |
.Location : . CytoBand : q13.12 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:IFT52; dbVar:nssv18788532 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43590937-43647299; 20:43594700-46010118 po_P_loss_percent : 0.04; 0.05; 0.05; 11.40; 0.27 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:43600387-43602268 dbVar po_B_loss_someG_coord : chr20:43597662-43597765 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43594951-43595034; 20:43595035-43595342 Repeat_type_left : AluSc; AluSg7 Gap_left : . GC_content_left : 0.580 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.385 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 6426 |
splitAnnotation_mode : split |
IFT52Gene_name : IFT52; LOEUF_bin : 4 GnomAD_pLI : 2.0125e-06 ExAC_pLI : 1.6303e-04 HI : . TS : . DDD_HI_percent : 21.64 ACMG : . ExAC_cnvZ : -0.957267223159506 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.811247970413386 ExAC_synZ : -0.383710239968146 ExAC_misZ : 0.0585741056901821 GenCC_disease : cranioectodermal dysplasia; short-rib thoracic dysplasia 16 with or without polydactyly GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 15182712; 15930098; 26880018; 26880018[PMID]_27466190[PMID]; 27466190; 30242358; 31042281 NCBI_gene_ID : 51098 |
intron2-intron3Location : intron2-intron3 CytoBand : q13.12 Location2 : CDS Tx : NM_001303458 Tx_version : 3 Tx_start : 43590936 Tx_end : 43647299 Exon_count : 14 Overlapped_tx_length : 6426 Overlapped_CDS_length : 88 Overlapped_CDS_percent : 6 Frameshift : yes Dist_nearest_SS : 224 Nearest_SS_type : 5' Intersect_start : 43595041 Intersect_end : 43601467 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2D-4 (CHMP4B, +0.90): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and it includes other exons in addition to the last exon. Nonsense-mediated decay is expected to occur. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 28432 Gene_count : 1 |
fullAnnotation_mode : full |
CHMP4BGene_name : CHMP4B; LOEUF_bin : 1 GnomAD_pLI : 9.5771e-01 ExAC_pLI : 8.8159e-01 HI : . TS : . DDD_HI_percent : 14.15 ExAC_cnvZ : -0.834325021712592 ExAC_delZ : -2.08964540305183 ExAC_dupZ : 0.205502429818189 ExAC_synZ : 1.03265280308015 ExAC_misZ : 2.96408969087311 Closest_left : ZNF341-AS1 Closest_right : RALY-AS1 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
PIGU (morbid/RE=EA_enhancer); RE_gene : PIGU (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Cataract 31, multiple types, 605387 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:CHMP4B po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:33811348-33854366 po_P_loss_percent : 0.18; 0.92; 0.84; 46.43 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:33843319-33845280 dbVar; chr20:33856126-33856195 dbVar; po_B_loss_someG_coord : chr20:33834529-33834891 dbVar; chr20:33856111-33856195 dbVar; chr20:33861585-33871826 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33834014-33834302; 20:33834303-33834537 Repeat_type_left : L1MEc; AluJo Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.750 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 28432 |
splitAnnotation_mode : split |
CHMP4BGene_name : CHMP4B; LOEUF_bin : 1 GnomAD_pLI : 9.5771e-01 ExAC_pLI : 8.8159e-01 HI : . TS : . DDD_HI_percent : 14.15 ACMG : . ExAC_cnvZ : -0.834325021712592 ExAC_delZ : -2.08964540305183 ExAC_dupZ : 0.205502429818189 ExAC_synZ : 1.03265280308015 ExAC_misZ : 2.96408969087311 GenCC_disease : cataract 31 multiple types; early-onset posterior polar cataract; early-onset posterior subcapsular cataract GenCC_moi : AD GenCC_classification : Strong; Supportive GenCC_pmid : 10909854; 17701905; 17701905[PMID]; 17701915; 30078984 NCBI_gene_ID : 128866 |
intron1-txEndLocation : intron1-txEnd CytoBand : q11.22 Location2 : CDS-3'UTR Tx : NM_176812 Tx_version : 5 Tx_start : 33811347 Tx_end : 33854366 Exon_count : 5 Overlapped_tx_length : 19975 Overlapped_CDS_length : 485 Overlapped_CDS_percent : 71 Frameshift : yes Dist_nearest_SS : 14075 Nearest_SS_type : 3' Intersect_start : 33834391 Intersect_end : 33854366 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2C-1 (KIF3B, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 12165 Gene_count : 1 |
fullAnnotation_mode : full |
KIF3BGene_name : KIF3B; LOEUF_bin : 2 GnomAD_pLI : 8.4213e-02 ExAC_pLI : 2.9915e-01 HI : . TS : . DDD_HI_percent : 22.85 ExAC_cnvZ : 0.160275694917033 ExAC_delZ : -0.861533762576394 ExAC_dupZ : 0.853647510937186 ExAC_synZ : -0.691470280996355 ExAC_misZ : 3.07202873442255 Closest_left : LOC124904885 Closest_right : ASXL1 |
.Location : . CytoBand : q11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Retinitis pigmentosa 89, 618955 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; morbid:KIF3B po_P_loss_coord : 20:32236739-47669019; 20:32301770-32335011 po_P_loss_percent : 0.08; 36.60 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:32311424-32311729 HPRC:pbsv.DEL.2556; 20:32311425-32311729 1000g; chr20:32311436-32311729 dbVar; po_B_loss_someG_coord : 20:32311424-32311729 CMRI:0_pbsv.DEL.438_duplicate7; chr20:32311424-32311729 dbVar; chr20:32311425-32311729 dbVar; chr20:32311436-32311729 gnomAD-SV_v3_DEL_chr20_c52763b3 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32307279-32307617; 20:32307687-32307948 Repeat_type_left : L1ME4b; AluYc Gap_left : . GC_content_left : 0.380 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32319562-32319885; 20:32319905-32320193 Repeat_type_right : AluSx1; AluSx Gap_right : . GC_content_right : 0.480 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 12165 |
splitAnnotation_mode : split |
KIF3BGene_name : KIF3B; LOEUF_bin : 2 GnomAD_pLI : 8.4213e-02 ExAC_pLI : 2.9915e-01 HI : . TS : . DDD_HI_percent : 22.85 ACMG : . ExAC_cnvZ : 0.160275694917033 ExAC_delZ : -0.861533762576394 ExAC_dupZ : 0.853647510937186 ExAC_synZ : -0.691470280996355 ExAC_misZ : 3.07202873442255 GenCC_disease : ciliopathy; retinitis pigmentosa 89 GenCC_moi : AD GenCC_classification : Limited; Moderate; Strong GenCC_pmid : 32386558 NCBI_gene_ID : 9371 |
intron1-intron5Location : intron1-intron5 CytoBand : q11.21 Location2 : 5'UTR-CDS Tx : NM_004798 Tx_version : 4 Tx_start : 32277650 Tx_end : 32335011 Exon_count : 9 Overlapped_tx_length : 12165 Overlapped_CDS_length : 1748 Overlapped_CDS_percent : 77 Frameshift : yes Dist_nearest_SS : 2063 Nearest_SS_type : 3' Intersect_start : 32307649 Intersect_end : 32319814 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-1 (NAPB, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
CST3 (morbid/RE=EA_enhancer); RE_gene : CST3 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664; dbVar:nssv15131690 po_P_loss_coord : 20:18520274-25866684; 20:21699708-24402817 po_P_loss_percent : 0.01; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:23378029-23378337 Repeat_type_right : AluJb Gap_right : . GC_content_right : 0.385 |
|||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
NAPBGene_name : NAPB; LOEUF_bin : 3 GnomAD_pLI : 1.1216e-01 ExAC_pLI : 9.8911e-01 HI : . TS : . DDD_HI_percent : 26.98 ACMG : . ExAC_cnvZ : 0.0827375113194787 ExAC_delZ : 0.667163056353785 ExAC_dupZ : -0.26229857760535 ExAC_synZ : 0.428676553480397 ExAC_misZ : 1.36903491640498 GenCC_disease : developmental and epileptic encephalopathy 107 GenCC_moi : AR GenCC_classification : Strong GenCC_pmid : 26235277; 28097321 NCBI_gene_ID : 63908 |
intron8-exon9Location : intron8-exon9 CytoBand : p11.21 Location2 : CDS Tx : XM_047440357 Tx_version : 1 Tx_start : 23374521 Tx_end : 23397143 Exon_count : 9 Overlapped_tx_length : 500 Overlapped_CDS_length : 29 Overlapped_CDS_percent : 4 Frameshift : yes Dist_nearest_SS : 29 Nearest_SS_type : 3' Intersect_start : 23377457 Intersect_end : 23377957 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-1 (PLCB4, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 7243 Gene_count : 1 |
fullAnnotation_mode : full |
PLCB4Gene_name : PLCB4; LOEUF_bin : 2 GnomAD_pLI : 3.0437e-06 ExAC_pLI : 2.7226e-01 HI : . TS : . DDD_HI_percent : 7.39 ExAC_cnvZ : 1.09866851327355 ExAC_delZ : 0.994897118266721 ExAC_dupZ : 0.941346197815781 ExAC_synZ : 0.89464512518817 ExAC_misZ : 3.13466058173666 Closest_left : LOC105372522 Closest_right : LAMP5-AS1 |
.Location : . CytoBand : p12.2 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Auriculocondylar syndrome 2A, 614669 (3) AD; Auriculocondylar syndrome 2B, 620458 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567; morbid:PLCB4 po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012; 20:9403006-9480808 po_P_loss_percent : 0.05; 0.08; 0.09; 0.11; 0.21; 0.05; 9.31 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:9417321-9419183 Repeat_type_left : L1MB7 Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.450 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 7243 |
splitAnnotation_mode : split |
PLCB4Gene_name : PLCB4; LOEUF_bin : 2 GnomAD_pLI : 3.0437e-06 ExAC_pLI : 2.7226e-01 HI : . TS : . DDD_HI_percent : 7.39 ACMG : . ExAC_cnvZ : 1.09866851327355 ExAC_delZ : 0.994897118266721 ExAC_dupZ : 0.941346197815781 ExAC_synZ : 0.89464512518817 ExAC_misZ : 3.13466058173666 GenCC_disease : auriculocondylar syndrome; auriculocondylar syndrome 1; auriculocondylar syndrome 2 GenCC_moi : AD; AR; sD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 22560091; 22560091[PMID]; 23315542; 23913798; 27007857 NCBI_gene_ID : 5332 |
intron24-intron27Location : intron24-intron27 CytoBand : p12.2 Location2 : CDS Tx : NM_001377134 Tx_version : 2 Tx_start : 9068677 Tx_end : 9480808 Exon_count : 39 Overlapped_tx_length : 7243 Overlapped_CDS_length : 473 Overlapped_CDS_percent : 13 Frameshift : yes Dist_nearest_SS : 1188 Nearest_SS_type : 5' Intersect_start : 9417897 Intersect_end : 9425140 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
4ACMG_class : 4 AnnotSV_ranking_score : 0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2C-1 (PLCB4, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3568 Gene_count : 1 |
fullAnnotation_mode : full |
PLCB4Gene_name : PLCB4; LOEUF_bin : 2 GnomAD_pLI : 3.0437e-06 ExAC_pLI : 2.7226e-01 HI : . TS : . DDD_HI_percent : 7.39 ExAC_cnvZ : 1.09866851327355 ExAC_delZ : 0.994897118266721 ExAC_dupZ : 0.941346197815781 ExAC_synZ : 0.89464512518817 ExAC_misZ : 3.13466058173666 Closest_left : LOC105372522 Closest_right : LAMP5-AS1 |
.Location : . CytoBand : p12.2 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012 po_P_loss_percent : 0.03; 0.04; 0.04; 0.05; 0.10; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:9371436-9371506 Repeat_type_right : (TTCC)n Gap_right : . GC_content_right : 0.345 |
||
full=4ACMG_class : full=4 |
DELSV_type : DEL SV_length : 3568 |
splitAnnotation_mode : split |
PLCB4Gene_name : PLCB4; LOEUF_bin : 2 GnomAD_pLI : 3.0437e-06 ExAC_pLI : 2.7226e-01 HI : . TS : . DDD_HI_percent : 7.39 ACMG : . ExAC_cnvZ : 1.09866851327355 ExAC_delZ : 0.994897118266721 ExAC_dupZ : 0.941346197815781 ExAC_synZ : 0.89464512518817 ExAC_misZ : 3.13466058173666 GenCC_disease : auriculocondylar syndrome; auriculocondylar syndrome 1; auriculocondylar syndrome 2 GenCC_moi : AD; AR; sD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 22560091; 22560091[PMID]; 23315542; 23913798; 27007857 NCBI_gene_ID : 5332 |
txStart-intron2Location : txStart-intron2 CytoBand : p12.2 Location2 : 5'UTR-CDS Tx : XM_011529254 Tx_version : 3 Tx_start : 9368948 Tx_end : 9480808 Exon_count : 32 Overlapped_tx_length : 2478 Overlapped_CDS_length : 105 Overlapped_CDS_percent : 3 Frameshift : no Dist_nearest_SS : 131 Nearest_SS_type : 5' Intersect_start : 9368948 Intersect_end : 9371426 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (3 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 30091 Gene_count : 3 |
fullAnnotation_mode : full |
LOC105376995; CRMA; MIR1-1HG; [...3genes]Gene_name : LOC105376995; CRMA; MIR1-1HG; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : 99.44 ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904947 Closest_right : MIR1-1 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486 po_P_loss_percent : 1.62; 2.17; 1.66; 1.90; 0.36 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 20:62528861-62529523 IMH; po_B_loss_someG_coord : chr20:62528860-62529523 gnomAD-SV_v3_DEL_chr20_ddfde6b8; chr20:62539919-62539944 HPRC:pbsv.DEL.5208 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62521118-62521837 Repeat_type_left : L1MC2 Gap_left : . GC_content_left : 0.465 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.730 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 30091 |
splitAnnotation_mode : split |
txStart-intron1Location : txStart-intron1 CytoBand : q13.33 Location2 : UTR Tx : NR_171007 Tx_version : 1 Tx_start : 62550452 Tx_end : 62570764 Exon_count : 4 Overlapped_tx_length : 1090 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 504 Nearest_SS_type : 5' Intersect_start : 62550452 Intersect_end : 62551542 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 30091 |
splitAnnotation_mode : split |
LOC105376995Gene_name : LOC105376995; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : XR_936978 Tx_version : 3 Tx_start : 62534007 Tx_end : 62536708 Exon_count : 3 Overlapped_tx_length : 2701 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62534007 Intersect_end : 62536708 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 30091 |
splitAnnotation_mode : split |
exon1-txEndLocation : exon1-txEnd CytoBand : q13.33 Location2 : UTR Tx : NR_033263 Tx_version : 1 Tx_start : 62543069 Tx_end : 62551561 Exon_count : 7 Overlapped_tx_length : 8473 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 117 Nearest_SS_type : 5' Intersect_start : 62543069 Intersect_end : 62551542 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (3 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 54398 Gene_count : 3 |
fullAnnotation_mode : full |
C20orf173; ERGIC3; FER1L4; [...3genes]Gene_name : C20orf173; ERGIC3; FER1L4; LOEUF_bin : 4 GnomAD_pLI : 2.2416e-05 ExAC_pLI : 3.8591e-03 HI : . TS : . DDD_HI_percent : 90.45 ExAC_cnvZ : -0.754597917507887 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.37434719683734 ExAC_synZ : 0.688530072870984 ExAC_misZ : 2.22740356986199 Closest_left : CEP250-AS1 Closest_right : LOC124904891 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=[...]RE_gene : GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.35; 1.76; 1.60; 0.44; 11.85 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35539312-35539335 HPRC:pbsv.DEL.2789 po_B_loss_someG_coord : chr20:35539287-35539335 HPRC:pbsv.DEL.2788 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35575160-35575472; 20:35575473-35575779 Repeat_type_right : L1MC4a; AluSc Gap_right : . GC_content_right : 0.400 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 54398 |
splitAnnotation_mode : split |
ERGIC3Gene_name : ERGIC3; LOEUF_bin : 4 GnomAD_pLI : 2.2416e-05 ExAC_pLI : 3.8591e-03 HI : . TS : . DDD_HI_percent : 32.69 ACMG : . ExAC_cnvZ : -0.754597917507887 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.37434719683734 ExAC_synZ : 0.688530072870984 ExAC_misZ : 2.22740356986199 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51614 |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.22 Location2 : 5'UTR-3'UTR Tx : NM_198398 Tx_version : 2 Tx_start : 35542077 Tx_end : 35557634 Exon_count : 14 Overlapped_tx_length : 15557 Overlapped_CDS_length : 1167 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 35542077 Intersect_end : 35557634 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 54398 |
splitAnnotation_mode : split |
C20orf173Gene_name : C20orf173; LOEUF_bin : 7 GnomAD_pLI : 1.0938e-06 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 90.45 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140873 |
txStart-exon12Location : txStart-exon12 CytoBand : q11.22 Location2 : 5'UTR-3'UTR Tx : XM_047439904 Tx_version : 1 Tx_start : 35520806 Tx_end : 35529652 Exon_count : 12 Overlapped_tx_length : 8661 Overlapped_CDS_length : 609 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : 152 Nearest_SS_type : 3' Intersect_start : 35520991 Intersect_end : 35529652 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 54398 |
splitAnnotation_mode : split |
intron35-txEndLocation : intron35-txEnd CytoBand : q11.22 Location2 : UTR Tx : NR_119376 Tx_version : 1 Tx_start : 35558736 Tx_end : 35607562 Exon_count : 43 Overlapped_tx_length : 16653 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 777 Nearest_SS_type : 5' Intersect_start : 35558736 Intersect_end : 35575389 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (3 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 58784 Gene_count : 3 |
fullAnnotation_mode : full |
BPIFB6; BPIFB3; BPIFB4; [...3genes]Gene_name : BPIFB6; BPIFB3; BPIFB4; LOEUF_bin : 7 GnomAD_pLI : 3.6763e-13 ExAC_pLI : 1.2701e-05 HI : . TS : . DDD_HI_percent : 75.5 ExAC_cnvZ : -1.38037498651695 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.0233423878970298 ExAC_synZ : 0.148474694246789 ExAC_misZ : -0.66641686925995 Closest_left : BPIFB2 Closest_right : LOC105372714 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
DNMT3B (morbid/RE=EA_enhancer); RE_gene : DNMT3B (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288 po_P_loss_percent : 0.38; 1.90 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:33064626-33075377 dbVar; chr20:33086422-33086475 dbVar; 20:33093545-33093648 CMRI:6_pbsv.DEL.751_duplicate7; 20:33093546-33093648 esv2659207; po_B_loss_someG_coord : chr20:33052542-33052566 HPRC:pbsv.DEL.2623; chr20:33074267-33077556 dbVar; chr20:33086566-33087384 dbVar; chr20:33093545-33093648 HPRC:pbsv.DEL.2626; chr20:33094216-33106994 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33036799-33036940; 20:33037004-33037123 Repeat_type_left : MIR1_Amn; MIR Gap_left : . GC_content_left : 0.580 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33095588-33095734 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.415 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 58784 |
splitAnnotation_mode : split |
BPIFB6Gene_name : BPIFB6; LOEUF_bin : 7 GnomAD_pLI : 2.8058e-13 ExAC_pLI : 1.2013e-11 HI : . TS : . DDD_HI_percent : 75.5 ACMG : . ExAC_cnvZ : -1.38037498651695 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.0233423878970298 ExAC_synZ : -0.98443416001835 ExAC_misZ : -0.66641686925995 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 128859 |
intron7-txEndLocation : intron7-txEnd CytoBand : q11.21 Location2 : CDS-3'UTR Tx : XM_017027663 Tx_version : 1 Tx_start : 33031647 Tx_end : 33044108 Exon_count : 15 Overlapped_tx_length : 7144 Overlapped_CDS_length : 693 Overlapped_CDS_percent : 49 Frameshift : no Dist_nearest_SS : 428 Nearest_SS_type : 5' Intersect_start : 33036964 Intersect_end : 33044108 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 58784 |
splitAnnotation_mode : split |
BPIFB3Gene_name : BPIFB3; LOEUF_bin : 7 GnomAD_pLI : 3.6763e-13 ExAC_pLI : 1.2701e-05 HI : . TS : . DDD_HI_percent : 72.06 ACMG : . ExAC_cnvZ : -1.5926808300207 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.247525500012051 ExAC_synZ : 0.148474694246789 ExAC_misZ : -0.676082883446531 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 359710 |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.21 Location2 : 5'UTR-3'UTR Tx : NM_001376932 Tx_version : 3 Tx_start : 33053902 Tx_end : 33073847 Exon_count : 16 Overlapped_tx_length : 19945 Overlapped_CDS_length : 1419 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 33053902 Intersect_end : 33073847 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 58784 |
splitAnnotation_mode : split |
BPIFB4Gene_name : BPIFB4; LOEUF_bin : 7 GnomAD_pLI : 4.6976e-21 ExAC_pLI : 3.4659e-17 HI : . TS : . DDD_HI_percent : 69.82 ACMG : . ExAC_cnvZ : -1.76721570748308 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.423619863791745 ExAC_synZ : -0.579456501887006 ExAC_misZ : -1.19098729274072 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 149954 |
txStart-intron12Location : txStart-intron12 CytoBand : q11.21 Location2 : 5'UTR-CDS Tx : NM_182519 Tx_version : 3 Tx_start : 33079642 Tx_end : 33111751 Exon_count : 18 Overlapped_tx_length : 16106 Overlapped_CDS_length : 1398 Overlapped_CDS_percent : 75 Frameshift : no Dist_nearest_SS : 595 Nearest_SS_type : 5' Intersect_start : 33079642 Intersect_end : 33095748 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (3 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 96106 Gene_count : 3 |
fullAnnotation_mode : full |
LOC107985400; LOC105372582; FAM182B; [...3genes]Gene_name : LOC107985400; LOC105372582; FAM182B; LOEUF_bin : 9 GnomAD_pLI : 8.7202e-02 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 92.73 ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : ZNF337 Closest_right : LOC101926935 |
.Location : . CytoBand : p11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664 po_P_loss_coord : 20:18520274-25866684 po_P_loss_percent : 1.31 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:25761053-25761347 HPRC:pbsv.DEL.1859; 20:25779224-25779410 CMRI:0_pbsv.DEL.341_duplicate10; chr20:25783207-25845155 HPRC:pbsv.DEL.1868; chr20:25809364-25814364 dbVar; po_B_loss_someG_coord : chr20:25739231-25742307 dbVar; chr20:25762179-25762265 dbVar; chr20:25779224-25779410 HPRC:pbsv.DEL.1865; chr20:25797364-25803364 dbVar; chr20:25817364-25822364 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:25752457-25845152; 20:25794647-25833697; 20:25798702-25845152; 20:25806801-25845152; 20:25806803-25845152; 20:25806803-25845152; 20:25811477-25845152; 20:25816277-25845152; 20:25818361-25845152 Repeat_coord_right : 20:25829244-25829522; 20:25829613-25829890 Repeat_type_right : AluSz; AluSx1 Gap_right : . GC_content_right : 0.440 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 96106 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.1 Location2 : UTR Tx : NR_027061 Tx_version : 3 Tx_start : 25763451 Tx_end : 25796108 Exon_count : 5 Overlapped_tx_length : 32657 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25763451 Intersect_end : 25796108 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 96106 |
splitAnnotation_mode : split |
LOC107985400Gene_name : LOC107985400; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-txEndLocation : intron1-txEnd CytoBand : p11.1 Location2 : UTR Tx : XR_007067556 Tx_version : 1 Tx_start : 25697040 Tx_end : 25748142 Exon_count : 2 Overlapped_tx_length : 14697 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 823 Nearest_SS_type : 3' Intersect_start : 25733445 Intersect_end : 25748142 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 96106 |
splitAnnotation_mode : split |
LOC105372582Gene_name : LOC105372582; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.1 Location2 : UTR Tx : NR_135006 Tx_version : 1 Tx_start : 25751207 Tx_end : 25756050 Exon_count : 2 Overlapped_tx_length : 4843 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25751207 Intersect_end : 25756050 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (3 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 62036 Gene_count : 3 |
fullAnnotation_mode : full |
LINC00851; DZANK1; LOC124904877; [...3genes]Gene_name : LINC00851; DZANK1; LOC124904877; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LOC107985418 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789 po_P_loss_percent : 0.46; 1.70 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:18435052-18435114 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18373894-18374164; 20:18374165-18374714 Repeat_type_left : AluSx; L1PA13 Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18435833-18436309 Repeat_type_right : L1M4a2 Gap_right : . GC_content_right : 0.315 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 62036 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron1-txEndLocation : intron1-txEnd CytoBand : p11.23 Location2 : CDS-3'UTR Tx : XM_017027921 Tx_version : 3 Tx_start : 18383366 Tx_end : 18442927 Exon_count : 14 Overlapped_tx_length : 52773 Overlapped_CDS_length : 1530 Overlapped_CDS_percent : 99 Frameshift : no Dist_nearest_SS : 2374 Nearest_SS_type : 3' Intersect_start : 18383366 Intersect_end : 18436139 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 62036 |
splitAnnotation_mode : split |
LOC124904877Gene_name : LOC124904877; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.23 Location2 : UTR Tx : XR_007067546 Tx_version : 1 Tx_start : 18389823 Tx_end : 18400109 Exon_count : 2 Overlapped_tx_length : 10286 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 18389823 Intersect_end : 18400109 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 62036 |
splitAnnotation_mode : split |
LINC00851Gene_name : LINC00851; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 440757 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.23 Location2 : UTR Tx : NR_034167 Tx_version : 1 Tx_start : 18379048 Tx_end : 18381484 Exon_count : 2 Overlapped_tx_length : 2436 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 18379048 Intersect_end : 18381484 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 28165 Gene_count : 2 |
fullAnnotation_mode : full |
MIR1257; TAF4; [...2genes]Gene_name : MIR1257; TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 Closest_left : LOC100128310 Closest_right : LOC105372704 |
.Location : . CytoBand : q13.33 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
PISD (morbid/RE=mTL_miRNA); RPS7 (morbid/RE=m[...]RE_gene : PISD (morbid/RE=mTL_miRNA); RPS7 (morbid/RE=mTL_miRNA); COL18A1 (morbid/RE=mTL_miRNA); DCX (HI=3/morbid/RE=mTL_miRNA); PIGS (morbid/RE=mTL_miRNA); COL9A3 (morbid/RE=EA_enhancer); ATP7A (HI=3/morbid/RE=mTL_miRNA); SLC25A46 (morbid/RE=mTL_miRNA); NHS (HI=3/morbid/RE=mTL_miRNA); KIF23 (morbid/RE=mTL_miRNA); TMEM70 (morbid/RE=mTL_miRNA); TNPO3 (morbid/RE=mTL_miRNA); SNAP29 (morbid/RE=mTL_miRNA); PCCB (morbid/RE=mTL_miRNA); COL4A4 (morbid/RE=mTL_miRNA); SPART (morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=EA_enhancer); NDUFA12 (morbid/RE=mTL_miRNA); TNR (morbid/RE=mTL_miRNA); SPRTN (morbid/RE=mTL_miRNA); EXOSC2 (morbid/RE=mTL_miRNA); REL (morbid/RE=mTL_miRNA); DDX3X (HI=3/morbid/RE=mTL_miRNA); MET (morbid/RE=mTL_miRNA); ELP2 (morbid/RE=mTL_miRNA); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Intellectual developmental disorder, AD 73, 620450 (3) AD po_P_loss_hpo : . po_P_loss_source : morbid:TAF4 po_P_loss_coord : 20:61974798-62065881 po_P_loss_percent : 3.87 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:61941788-61959104 dbVar; 20:61951232-61951537 CMRI:2_pbsv.DEL.1165_duplicate11; chr20:61951232-61951537 dbVar; chr20:61951246-61951537 gnomAD-SV_v3_DEL_chr20_927c55b3; chr20:61966679-61966709 HPRC:pbsv.DEL.4993; chr20:61970036-61972750 dbVar; 20:61970871-61970933 CMRI:2_pbsv.DEL.1167_duplicate9; chr20:61970905-61970966 dbVar; chr20:61977040-61977073 HPRC:pbsv.DEL.5005; 20:61978150-61978206 CMRI:26_pbsv.DEL.775_duplicate7; po_B_loss_someG_coord : chr20:61939719-61962534 dbVar; chr20:61951156-61951386 gnomAD-SV_v3_DEL_chr20_eb906a5f; chr20:61951232-61951537 HPRC:pbsv.DEL.4991; chr20:61951246-61951537 dbVar; chr20:61952081-61952113 HPRC:pbsv.DEL.4992; chr20:61969883-61969970 dbVar; 20:61970836-61971332 CMRI:1_pbsv.DEL.830_duplicate9; chr20:61970871-61970933 HPRC:pbsv.DEL.4999; 20:61971023-61971519 CMRI:29_pbsv.DEL.1674_duplicate4; chr20:61978043-61978108 dbVar; chr20:61978201-61978263 HPRC:pbsv.DEL.5006 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.645 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.680 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 28165 |
splitAnnotation_mode : split |
TAF4Gene_name : TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ACMG : . ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6874 |
intron15-txEndLocation : intron15-txEnd CytoBand : q13.33 Location2 : CDS-3'UTR Tx : XM_047440429 Tx_version : 1 Tx_start : 61974797 Tx_end : 62065863 Exon_count : 16 Overlapped_tx_length : 3526 Overlapped_CDS_length : 168 Overlapped_CDS_percent : 7 Frameshift : no Dist_nearest_SS : 1988 Nearest_SS_type : 3' Intersect_start : 61974797 Intersect_end : 61978323 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 28165 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : NR_031658 Tx_version : 1 Tx_start : 61953545 Tx_end : 61953662 Exon_count : 1 Overlapped_tx_length : 117 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 61953545 Intersect_end : 61953662 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:61939719-61962534; chr20:61941788-61959104 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 36876 Gene_count : 2 |
fullAnnotation_mode : full |
MIR1257; TAF4; [...2genes]Gene_name : MIR1257; TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 Closest_left : LOC100128310 Closest_right : LOC105372704 |
.Location : . CytoBand : q13.33 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
EXOSC2 (morbid/RE=mTL_miRNA); SPRTN (morbid/R[...]RE_gene : EXOSC2 (morbid/RE=mTL_miRNA); SPRTN (morbid/RE=mTL_miRNA); TNR (morbid/RE=mTL_miRNA); NDUFA12 (morbid/RE=mTL_miRNA); MET (morbid/RE=mTL_miRNA); ELP2 (morbid/RE=mTL_miRNA); REL (morbid/RE=mTL_miRNA); DDX3X (HI=3/morbid/RE=mTL_miRNA); COL4A4 (morbid/RE=mTL_miRNA); PCCB (morbid/RE=mTL_miRNA); SPART (morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=EA_enhancer); KIF23 (morbid/RE=mTL_miRNA); NHS (HI=3/morbid/RE=mTL_miRNA); SNAP29 (morbid/RE=mTL_miRNA); TNPO3 (morbid/RE=mTL_miRNA); TMEM70 (morbid/RE=mTL_miRNA); DCX (HI=3/morbid/RE=mTL_miRNA); COL18A1 (morbid/RE=mTL_miRNA); PIGS (morbid/RE=mTL_miRNA); COL9A3 (morbid/RE=EA_enhancer); PISD (morbid/RE=mTL_miRNA); RPS7 (morbid/RE=mTL_miRNA); ATP7A (HI=3/morbid/RE=mTL_miRNA); SLC25A46 (morbid/RE=mTL_miRNA); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Intellectual developmental disorder, AD 73, 620450 (3) AD po_P_loss_hpo : . po_P_loss_source : morbid:TAF4 po_P_loss_coord : 20:61974798-62065881 po_P_loss_percent : 7.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:61941788-61959104 dbVar; chr20:61942797-61949608 HPRC:pbsv.DEL.4965; 20:61943191-61945118 CMRI:3_pbsv.DEL.1388_duplicate4; chr20:61943591-61945118 HPRC:pbsv.DEL.4971; chr20:61943613-61945990 HPRC:pbsv.DEL.4972; chr20:61943713-61945490 HPRC:pbsv.DEL.4973; chr20:61944061-61946638 HPRC:pbsv.DEL.4974; 20:61944918-61948101 CMRI:104_pbsv.DEL.1006_duplicate4; 20:61945084-61948117 CMRI:5_pbsv.DEL.1168_duplicate7; 20:61945183-61947869 CMRI:7_pbsv.DEL.1007_duplicate6; 20:61945234-61945284 CMRI:32_pbsv.DEL.1155_duplicate6; chr20:61945256-61948739 HPRC:pbsv.DEL.4978; chr20:61945815-61946758 HPRC:pbsv.DEL.4979; chr20:61945973-61948456 HPRC:pbsv.DEL.4980; 20:61946486-61948619 CMRI:2_pbsv.DEL.1164_duplicate10; chr20:61946882-61947682 HPRC:pbsv.DEL.4986; 20:61948210-61948559 CMRI:131_pbsv.DEL.1134_duplicate8; chr20:61948416-61948466 HPRC:pbsv.DEL.4989; chr20:61949091-61949145 dbVar; 20:61951232-61951537 CMRI:2_pbsv.DEL.1165_duplicate11... po_B_loss_someG_coord : chr20:61939719-61962534 dbVar; 20:61942797-61949608 CMRI:39_pbsv.DEL.1116_duplicate9; chr20:61943057-61947954 gnomAD-SV_v3_DEL_chr20_91020148; chr20:61943555-61945632 HPRC:pbsv.DEL.4970; 20:61943613-61945990 CMRI:7_pbsv.DEL.1004_duplicate4; 20:61943623-61947340 CMRI:5_pbsv.DEL.1165_duplicate6; 20:61943755-61945632 CMRI:3_pbsv.DEL.1389_duplicate9; 20:61944652-61945999 CMRI:12_pbsv.DEL.1073_duplicate9; 20:61944953-61947093 CMRI:3_pbsv.DEL.1390_duplicate7; chr20:61945120-61947510 HPRC:pbsv.DEL.4976; chr20:61945183-61947869 HPRC:pbsv.DEL.4977; 20:61945256-61948739 CMRI:5_pbsv.DEL.1169_duplicate7; 20:61945449-61947689 CMRI:2_pbsv.DEL.1160_duplicate10; 20:61945818-61947961 IMH; chr20:61946018-61946068 HPRC:pbsv.DEL.4981; chr20:61946633-61947073 HPRC:pbsv.DEL.4984; chr20:61946989-61948132 HPRC:pbsv.DEL.4987; chr20:61948268-61948469 HPRC:pbsv.DEL.4988; 20:61948456-61948506 CMRI:77_pbsv.DEL.1210_duplicate7; chr20:61951156-61951386 gnomAD-SV_v3_DEL_chr20_eb906a5f... |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 20:61942997-61945723 Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.675 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:61980879-61981683 Repeat_type_right : L1MC4 Gap_right : . GC_content_right : 0.515 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 36876 |
splitAnnotation_mode : split |
TAF4Gene_name : TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ACMG : . ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6874 |
intron15-txEndLocation : intron15-txEnd CytoBand : q13.33 Location2 : CDS-3'UTR Tx : XM_047440429 Tx_version : 1 Tx_start : 61974797 Tx_end : 62065863 Exon_count : 16 Overlapped_tx_length : 6456 Overlapped_CDS_length : 168 Overlapped_CDS_percent : 7 Frameshift : no Dist_nearest_SS : 4918 Nearest_SS_type : 3' Intersect_start : 61974797 Intersect_end : 61981253 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 36876 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : NR_031658 Tx_version : 1 Tx_start : 61953545 Tx_end : 61953662 Exon_count : 1 Overlapped_tx_length : 117 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 61953545 Intersect_end : 61953662 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:61939719-61962534; chr20:61941788-61959104 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2D-1 (VAPB,+0.00): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and only the 3' untranslated region is involved. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11936 Gene_count : 2 |
fullAnnotation_mode : full |
VAPB; APCDD1L; [...2genes]Gene_name : VAPB; APCDD1L; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 75.86 ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.889461460184267 Closest_left : RAB22A Closest_right : APCDD1L-DT |
.Location : . CytoBand : q13.32 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248; morbid:VAPB po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101 po_P_loss_percent : 0.46; 1.66 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.410 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58461665-58462098 Repeat_type_right : L2b Gap_right : . GC_content_right : 0.500 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11936 |
splitAnnotation_mode : split |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ACMG : . ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029 NCBI_gene_ID : 9217 |
exon3-txEndLocation : exon3-txEnd CytoBand : q13.32 Location2 : 3'UTR Tx : NM_001195677 Tx_version : 2 Tx_start : 58389228 Tx_end : 58451101 Exon_count : 3 Overlapped_tx_length : 1027 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5998 Nearest_SS_type : 3' Intersect_start : 58450074 Intersect_end : 58451101 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11936 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron4-txEndLocation : intron4-txEnd CytoBand : q13.32 Location2 : CDS-3'UTR Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 2910 Overlapped_CDS_length : 765 Overlapped_CDS_percent : 49 Frameshift : no Dist_nearest_SS : 456 Nearest_SS_type : 3' Intersect_start : 58459100 Intersect_end : 58462010 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 16991 Gene_count : 2 |
fullAnnotation_mode : full |
LOC105372581; GINS1; [...2genes]Gene_name : LOC105372581; GINS1; LOEUF_bin : 7 GnomAD_pLI : 7.7028e-07 ExAC_pLI : 5.0037e-02 HI : . TS : . DDD_HI_percent : 32.55 ExAC_cnvZ : -1.6665899309683 ExAC_delZ : -1.4727134938276 ExAC_dupZ : -1.730483909924 ExAC_synZ : 0.0808015926334467 ExAC_misZ : 0.458459257830594 Closest_left : ABHD12 Closest_right : NINL |
.Location : . CytoBand : p11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Immunodeficiency 55, 617827 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664; dbVar:nssv18787413; morbid:GINS1 po_P_loss_coord : 20:18520274-25866684; 20:25339208-25445991; 20:25411117-25448563 po_P_loss_percent : 0.23; 15.91; 30.63 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:25406881-25655474 dbVar po_B_loss_someG_coord : chr20:25388034-25406872 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:25405382-25405522; 20:25405523-25406173 Repeat_type_left : AluSx; LTR8 Gap_left : . GC_content_left : 0.445 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:25422294-25422606; 20:25422607-25422777 Repeat_type_right : AluJb; L1ME3B Gap_right : . GC_content_right : 0.425 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 16991 |
splitAnnotation_mode : split |
GINS1Gene_name : GINS1; LOEUF_bin : 7 GnomAD_pLI : 7.7028e-07 ExAC_pLI : 5.0037e-02 HI : . TS : . DDD_HI_percent : 32.55 ACMG : . ExAC_cnvZ : -1.6665899309683 ExAC_delZ : -1.4727134938276 ExAC_dupZ : -1.730483909924 ExAC_synZ : 0.0808015926334467 ExAC_misZ : 0.458459257830594 GenCC_disease : combined immunodeficiency due to GINS1 deficiency GenCC_moi : AR GenCC_classification : Limited; Supportive GenCC_pmid : 28414293; 28414293[PMID]; 31630891 NCBI_gene_ID : 9837 |
txStart-intron6Location : txStart-intron6 CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : XM_047440625 Tx_version : 1 Tx_start : 25407672 Tx_end : 25425291 Exon_count : 7 Overlapped_tx_length : 14914 Overlapped_CDS_length : 579 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : 1598 Nearest_SS_type : 5' Intersect_start : 25407672 Intersect_end : 25422586 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:25406881-25655474 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 16991 |
splitAnnotation_mode : split |
LOC105372581Gene_name : LOC105372581; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-intron1Location : txStart-intron1 CytoBand : p11.21 Location2 : UTR Tx : XR_937403 Tx_version : 3 Tx_start : 25394649 Tx_end : 25408295 Exon_count : 3 Overlapped_tx_length : 2700 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2475 Nearest_SS_type : 5' Intersect_start : 25405595 Intersect_end : 25408295 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 55142 Gene_count : 2 |
fullAnnotation_mode : full |
SPTLC3; TASP1; [...2genes]Gene_name : SPTLC3; TASP1; LOEUF_bin : 2 GnomAD_pLI : 6.0781e-01 ExAC_pLI : 9.5618e-01 HI : . TS : . DDD_HI_percent : 55.96 ExAC_cnvZ : -1.17887220601726 ExAC_delZ : -0.500280966939094 ExAC_dupZ : -1.41345273995757 ExAC_synZ : 0.0691917854096639 ExAC_misZ : 2.01302221772351 Closest_left : LINC01723 Closest_right : ISM1 |
.Location : . CytoBand : p12.1 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012 po_P_loss_percent : 0.39; 0.81; 0.41 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:13100969-13100997 HPRC:pbsv.DEL.1030 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13090564-13091010 Repeat_type_left : L1ME3A Gap_left : . GC_content_left : 0.345 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:13145148-13145914 Repeat_type_right : L1PREC2 Gap_right : . GC_content_right : 0.350 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 55142 |
splitAnnotation_mode : split |
TASP1Gene_name : TASP1; LOEUF_bin : 2 GnomAD_pLI : 6.0781e-01 ExAC_pLI : 9.5618e-01 HI : . TS : . DDD_HI_percent : 7.4 ACMG : . ExAC_cnvZ : -1.50411977290555 ExAC_delZ : -0.500280966939094 ExAC_dupZ : -1.89914906672369 ExAC_synZ : 0.0691917854096639 ExAC_misZ : 2.01302221772351 GenCC_disease : Suleiman-El-Hattab syndrome GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 16951254; 29633245; 31209944; 31350873 NCBI_gene_ID : 55617 |
intron14-txEndLocation : intron14-txEnd CytoBand : p12.1 Location2 : UTR Tx : XR_001754319 Tx_version : 3 Tx_start : 13104771 Tx_end : 13638932 Exon_count : 15 Overlapped_tx_length : 40878 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 40392 Nearest_SS_type : 3' Intersect_start : 13104771 Intersect_end : 13145649 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 55142 |
splitAnnotation_mode : split |
SPTLC3Gene_name : SPTLC3; LOEUF_bin : 4 GnomAD_pLI : 3.2277e-07 ExAC_pLI : 2.7552e-03 HI : . TS : . DDD_HI_percent : 55.96 ACMG : . ExAC_cnvZ : -1.17887220601726 ExAC_delZ : -0.716653814749956 ExAC_dupZ : -1.41345273995757 ExAC_synZ : -0.300391139079614 ExAC_misZ : 0.282423350871239 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55304 |
intron4-intron9Location : intron4-intron9 CytoBand : p12.1 Location2 : CDS Tx : XM_011529279 Tx_version : 2 Tx_start : 13008971 Tx_end : 13164471 Exon_count : 12 Overlapped_tx_length : 55142 Overlapped_CDS_length : 672 Overlapped_CDS_percent : 42 Frameshift : no Dist_nearest_SS : 575 Nearest_SS_type : 3' Intersect_start : 13090507 Intersect_end : 13145649 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 44391 Gene_count : 2 |
fullAnnotation_mode : full |
SPTLC3; TASP1; [...2genes]Gene_name : SPTLC3; TASP1; LOEUF_bin : 2 GnomAD_pLI : 6.0781e-01 ExAC_pLI : 9.5618e-01 HI : . TS : . DDD_HI_percent : 55.96 ExAC_cnvZ : -1.17887220601726 ExAC_delZ : -0.500280966939094 ExAC_dupZ : -1.41345273995757 ExAC_synZ : 0.0691917854096639 ExAC_misZ : 2.01302221772351 Closest_left : LINC01723 Closest_right : ISM1 |
.Location : . CytoBand : p12.1 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012 po_P_loss_percent : 0.32; 0.66; 0.33 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:13100969-13100997 HPRC:pbsv.DEL.1030 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13090564-13091010 Repeat_type_left : L1ME3A Gap_left : . GC_content_left : 0.345 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:13134765-13134814 Repeat_type_right : GA-rich Gap_right : . GC_content_right : 0.415 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 44391 |
splitAnnotation_mode : split |
TASP1Gene_name : TASP1; LOEUF_bin : 2 GnomAD_pLI : 6.0781e-01 ExAC_pLI : 9.5618e-01 HI : . TS : . DDD_HI_percent : 7.4 ACMG : . ExAC_cnvZ : -1.50411977290555 ExAC_delZ : -0.500280966939094 ExAC_dupZ : -1.89914906672369 ExAC_synZ : 0.0691917854096639 ExAC_misZ : 2.01302221772351 GenCC_disease : Suleiman-El-Hattab syndrome GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 16951254; 29633245; 31209944; 31350873 NCBI_gene_ID : 55617 |
intron14-txEndLocation : intron14-txEnd CytoBand : p12.1 Location2 : UTR Tx : XR_001754319 Tx_version : 3 Tx_start : 13104771 Tx_end : 13638932 Exon_count : 15 Overlapped_tx_length : 30127 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 29641 Nearest_SS_type : 3' Intersect_start : 13104771 Intersect_end : 13134898 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 44391 |
splitAnnotation_mode : split |
SPTLC3Gene_name : SPTLC3; LOEUF_bin : 4 GnomAD_pLI : 3.2277e-07 ExAC_pLI : 2.7552e-03 HI : . TS : . DDD_HI_percent : 55.96 ACMG : . ExAC_cnvZ : -1.17887220601726 ExAC_delZ : -0.716653814749956 ExAC_dupZ : -1.41345273995757 ExAC_synZ : -0.300391139079614 ExAC_misZ : 0.282423350871239 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55304 |
intron4-intron9Location : intron4-intron9 CytoBand : p12.1 Location2 : CDS Tx : XM_011529279 Tx_version : 2 Tx_start : 13008971 Tx_end : 13164471 Exon_count : 12 Overlapped_tx_length : 44391 Overlapped_CDS_length : 672 Overlapped_CDS_percent : 42 Frameshift : no Dist_nearest_SS : 575 Nearest_SS_type : 3' Intersect_start : 13090507 Intersect_end : 13134898 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 74170 Gene_count : 2 |
fullAnnotation_mode : full |
SPTLC3; TASP1; [...2genes]Gene_name : SPTLC3; TASP1; LOEUF_bin : 2 GnomAD_pLI : 6.0781e-01 ExAC_pLI : 9.5618e-01 HI : . TS : . DDD_HI_percent : 55.96 ExAC_cnvZ : -1.17887220601726 ExAC_delZ : -0.500280966939094 ExAC_dupZ : -1.41345273995757 ExAC_synZ : 0.0691917854096639 ExAC_misZ : 2.01302221772351 Closest_left : LINC01723 Closest_right : ISM1 |
.Location : . CytoBand : p12.1 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012 po_P_loss_percent : 0.53; 1.09; 0.55 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:13087010-13089866 dbVar; po_B_loss_someG_coord : chr20:13077725-13085583 dbVar; chr20:13100969-13100997 HPRC:pbsv.DEL.1030 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13071116-13071624 Repeat_type_left : MER75 Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:13145148-13145914 Repeat_type_right : L1PREC2 Gap_right : . GC_content_right : 0.350 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 74170 |
splitAnnotation_mode : split |
TASP1Gene_name : TASP1; LOEUF_bin : 2 GnomAD_pLI : 6.0781e-01 ExAC_pLI : 9.5618e-01 HI : . TS : . DDD_HI_percent : 7.4 ACMG : . ExAC_cnvZ : -1.50411977290555 ExAC_delZ : -0.500280966939094 ExAC_dupZ : -1.89914906672369 ExAC_synZ : 0.0691917854096639 ExAC_misZ : 2.01302221772351 GenCC_disease : Suleiman-El-Hattab syndrome GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 16951254; 29633245; 31209944; 31350873 NCBI_gene_ID : 55617 |
intron14-txEndLocation : intron14-txEnd CytoBand : p12.1 Location2 : UTR Tx : XR_001754319 Tx_version : 3 Tx_start : 13104771 Tx_end : 13638932 Exon_count : 15 Overlapped_tx_length : 40878 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 40392 Nearest_SS_type : 3' Intersect_start : 13104771 Intersect_end : 13145649 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 74170 |
splitAnnotation_mode : split |
SPTLC3Gene_name : SPTLC3; LOEUF_bin : 4 GnomAD_pLI : 3.2277e-07 ExAC_pLI : 2.7552e-03 HI : . TS : . DDD_HI_percent : 55.96 ACMG : . ExAC_cnvZ : -1.17887220601726 ExAC_delZ : -0.716653814749956 ExAC_dupZ : -1.41345273995757 ExAC_synZ : -0.300391139079614 ExAC_misZ : 0.282423350871239 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55304 |
intron2-intron9Location : intron2-intron9 CytoBand : p12.1 Location2 : CDS Tx : XM_011529279 Tx_version : 2 Tx_start : 13008971 Tx_end : 13164471 Exon_count : 12 Overlapped_tx_length : 74170 Overlapped_CDS_length : 976 Overlapped_CDS_percent : 62 Frameshift : yes Dist_nearest_SS : 776 Nearest_SS_type : 3' Intersect_start : 13071479 Intersect_end : 13145649 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 13258 Gene_count : 2 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
LDLRAP1 (morbid/RE=mTL_miRNA); ARPC5 (morbid/[...]RE_gene : LDLRAP1 (morbid/RE=mTL_miRNA); ARPC5 (morbid/RE=mTL_miRNA); NCDN (morbid/RE=mTL_miRNA); PRDM16 (morbid/RE=mTL_miRNA); MSN (morbid/RE=mTL_miRNA); MYPN (morbid/RE=mTL_miRNA); MMP9 (morbid/RE=mTL_miRNA); IGF1R (HI=3/morbid/RE=mTL_miRNA); NR4A2 (HI=3/morbid/RE=mTL_miRNA); NEUROD1 (morbid/RE=mTL_miRNA); CDC42 (morbid/RE=mTL_miRNA); PNP (morbid/RE=mTL_miRNA); HCN2 (morbid/RE=mTL_miRNA); COL1A1 (HI=3/morbid/RE=mTL_miRNA); SGMS2 (morbid/RE=mTL_miRNA); SOX4 (morbid/RE=mTL_miRNA)...; RPA1 (morbid/RE=mTL_miRNA); PIK3R2 (morbid/RE=mTL_miRNA); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); ERBB2 (morbid/RE=mTL_miRNA); PACS2 (morbid/RE=mTL_miRNA); NR3C1 (morbid/RE=mTL_miRNA); FBN1 (HI=3/morbid/RE=mTL_miRNA); RNF168 (morbid/RE=mTL_miRNA); PLEKHG2 (morbid/RE=mTL_miRNA); KCNH2 (HI=3/morbid/RE=mTL_miRNA); CACNA1C (morbid/RE=mTL_miRNA); MC2R (morbid/RE=mTL_miRNA); RFT1 (morbid/RE=mTL_miRNA); SERPINH1 (morbid/RE=mTL_miRNA); MYO3A (morbid/RE=mTL_miRNA); ATP13A3 (morbid/RE=mTL_miRNA); SFTPB (morbid/RE=mTL_miRNA); IGF1 (morbid/RE=mTL_miRNA); CCDC39 (morbid/RE=mTL_miRNA); FTL (morbid/RE=mTL_miRNA); PRRT2 (HI=3/morbid/RE=mTL_miRNA); EGFR (morbid/RE=mTL_miRNA); PGM2L1 (morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=EA_enhancer); ARHGAP31 (morbid/RE=mTL_miRNA); NACC1 (morbid/RE=mTL_miRNA); PLEKHM1 (morbid/RE=mTL_miRNA); IBA57 (morbid/RE=mTL_miRNA); HCN4 (morbid/RE=mTL_miRNA); RHOA (morbid/RE=mTL_miRNA); KCNQ1 (HI=3/morbid/RE=mTL_miRNA); DNAJB6 (morbid/RE=mTL_miRNA); RBPJ (morbid/RE=mTL_miRNA); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321 po_P_loss_percent : 0.71; 0.96; 0.73; 0.84; 0.78; 0.77; 0.77 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:62574396-62575647 dbVar po_B_loss_someG_coord : chr20:62566534-62566613 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.645 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.575 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 13258 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : NR_029676 Tx_version : 1 Tx_start : 62564911 Tx_end : 62565013 Exon_count : 1 Overlapped_tx_length : 102 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62564911 Intersect_end : 62565013 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 13258 |
splitAnnotation_mode : split |
intron2-txEndLocation : intron2-txEnd CytoBand : q13.33 Location2 : UTR Tx : NR_171007 Tx_version : 1 Tx_start : 62550452 Tx_end : 62570764 Exon_count : 4 Overlapped_tx_length : 8168 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2392 Nearest_SS_type : 3' Intersect_start : 62562596 Intersect_end : 62570764 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 992 Gene_count : 2 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486 po_P_loss_percent : 0.05; 0.07; 0.05; 0.06; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62550498-62550525 Repeat_type_left : (CCCTC)n Gap_left : . GC_content_left : 0.710 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.730 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 992 |
splitAnnotation_mode : split |
exon1-intron1Location : exon1-intron1 CytoBand : q13.33 Location2 : UTR Tx : NR_033263 Tx_version : 1 Tx_start : 62543069 Tx_end : 62551561 Exon_count : 7 Overlapped_tx_length : 992 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 117 Nearest_SS_type : 5' Intersect_start : 62550550 Intersect_end : 62551542 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 992 |
splitAnnotation_mode : split |
exon1-intron1Location : exon1-intron1 CytoBand : q13.33 Location2 : UTR Tx : NR_171007 Tx_version : 1 Tx_start : 62550452 Tx_end : 62570764 Exon_count : 4 Overlapped_tx_length : 992 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 488 Nearest_SS_type : 5' Intersect_start : 62550550 Intersect_end : 62551542 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 16770 Gene_count : 2 |
fullAnnotation_mode : full |
SS18L1; MTG2; [...2genes]Gene_name : SS18L1; MTG2; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 81.42 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : 0.17073896031188 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : HRH3 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:62184154-62185202 dbVar; po_B_loss_someG_coord : 20:62184152-62185211 DDD:55221; chr20:62185351-62195070 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62175407-62175554 Repeat_type_left : L2b Gap_left : . GC_content_left : 0.635 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62192000-62192831 Repeat_type_right : MER21C Gap_right : . GC_content_right : 0.545 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 16770 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
intron11-txEndLocation : intron11-txEnd CytoBand : q13.33 Location2 : CDS-3'UTR Tx : NM_001301778 Tx_version : 2 Tx_start : 62143768 Tx_end : 62182514 Exon_count : 12 Overlapped_tx_length : 7186 Overlapped_CDS_length : 27 Overlapped_CDS_percent : 3 Frameshift : no Dist_nearest_SS : 684 Nearest_SS_type : 5' Intersect_start : 62175328 Intersect_end : 62182514 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 16770 |
splitAnnotation_mode : split |
MTG2Gene_name : MTG2; LOEUF_bin : 5 GnomAD_pLI : 3.3086e-04 ExAC_pLI : 6.0886e-04 HI : . TS : . DDD_HI_percent : 81.42 ACMG : . ExAC_cnvZ : -1.32774353389922 ExAC_delZ : -2.09512792694799 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 0.17073896031188 ExAC_misZ : 0.503074989693042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26164 |
txStart-intron1Location : txStart-intron1 CytoBand : q13.33 Location2 : 5'UTR-CDS Tx : XM_024451869 Tx_version : 2 Tx_start : 62188533 Tx_end : 62203568 Exon_count : 8 Overlapped_tx_length : 3565 Overlapped_CDS_length : 43 Overlapped_CDS_percent : 3 Frameshift : yes Dist_nearest_SS : 1317 Nearest_SS_type : 3' Intersect_start : 62188533 Intersect_end : 62192098 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:62185351-62195070 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 2 |
fullAnnotation_mode : full |
LOC105372666; LOC124904931; [...2genes]Gene_name : LOC105372666; LOC124904931; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372667 Closest_right : LOC105372665 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150235; dbVar:nssv15134928 po_P_loss_coord : 20:49011308-53428941; 20:50781991-52792847 po_P_loss_percent : 0.02; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:52490892-52491372 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:52491242-52491967 Repeat_type_left : L1PA7 Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.430 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
LOC124904931Gene_name : LOC124904931; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : q13.2 Location2 : UTR Tx : XR_007067654 Tx_version : 1 Tx_start : 52488058 Tx_end : 52500591 Exon_count : 2 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3026 Nearest_SS_type : 3' Intersect_start : 52491288 Intersect_end : 52492288 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
LOC105372666Gene_name : LOC105372666; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron3-intron3Location : intron3-intron3 CytoBand : q13.2 Location2 : UTR Tx : XR_001754671 Tx_version : 2 Tx_start : 52210642 Tx_end : 52571981 Exon_count : 7 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 38599 Nearest_SS_type : 3' Intersect_start : 52491288 Intersect_end : 52492288 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 66935 Gene_count : 2 |
fullAnnotation_mode : full |
NCOA3; SULF2; [...2genes]Gene_name : NCOA3; SULF2; LOEUF_bin : 1 GnomAD_pLI : 5.4065e-01 ExAC_pLI : 9.9992e-01 HI : . TS : . DDD_HI_percent : 35.06 ExAC_cnvZ : 1.4781806390142e-05 ExAC_delZ : -1.25129113368909 ExAC_dupZ : 0.967094670097161 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 Closest_left : LINC01754 Closest_right : LOC124904922 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SLC2A10 (morbid/RE=EA_enhancer); TP53RK (morb[...]RE_gene : SLC2A10 (morbid/RE=EA_enhancer); TP53RK (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.16; 0.57; 1.19 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:47657452-47666761 dbVar; chr20:47681951-47682154 dbVar; chr20:47710086-47710700 gnomAD-SV_v3_DEL_chr20_e3fe021e; 20:47710215-47710700 IMH; 20:47710219-47710717 1000g; po_B_loss_someG_coord : chr20:47645423-47646035 dbVar; chr20:47681949-47682154 dbVar; chr20:47703145-47706648 dbVar; chr20:47710214-47710719 dbVar; chr20:47710218-47710717 dbVar; 20:47710219-47710717 esv3645974 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:47644697-47644995 Repeat_type_left : AluSx3 Gap_left : . GC_content_left : 0.560 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:47711686-47711744; 20:47711746-47711998 Repeat_type_right : ORSL-2a; (CA)n Gap_right : . GC_content_right : 0.345 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 66935 |
splitAnnotation_mode : split |
NCOA3Gene_name : NCOA3; LOEUF_bin : 1 GnomAD_pLI : 5.4065e-01 ExAC_pLI : 9.9992e-01 HI : . TS : . DDD_HI_percent : 16.22 ACMG : . ExAC_cnvZ : 1.4781806390142e-05 ExAC_delZ : -1.25129113368909 ExAC_dupZ : 0.967094670097161 ExAC_synZ : -0.511158738801683 ExAC_misZ : -0.505371555325067 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8202 |
intron17-txEndLocation : intron17-txEnd CytoBand : q13.12 Location2 : CDS-3'UTR Tx : NM_181659 Tx_version : 3 Tx_start : 47501886 Tx_end : 47656872 Exon_count : 23 Overlapped_tx_length : 12057 Overlapped_CDS_length : 1023 Overlapped_CDS_percent : 23 Frameshift : no Dist_nearest_SS : 2257 Nearest_SS_type : 3' Intersect_start : 47644815 Intersect_end : 47656872 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 66935 |
splitAnnotation_mode : split |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ACMG : . ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55959 |
intron3-txEndLocation : intron3-txEnd CytoBand : q13.12 Location2 : CDS-3'UTR Tx : NM_001387055 Tx_version : 1 Tx_start : 47657405 Tx_end : 47764428 Exon_count : 21 Overlapped_tx_length : 54345 Overlapped_CDS_length : 2201 Overlapped_CDS_percent : 84 Frameshift : yes Dist_nearest_SS : 9080 Nearest_SS_type : 3' Intersect_start : 47657405 Intersect_end : 47711750 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3782 Gene_count : 2 |
fullAnnotation_mode : full |
R3HDML; R3HDML-AS1; [...2genes]Gene_name : R3HDML; R3HDML-AS1; LOEUF_bin : 7 GnomAD_pLI : 1.8840e-06 ExAC_pLI : 2.9962e-03 HI : . TS : . DDD_HI_percent : 63.29 ExAC_cnvZ : -0.144496452166577 ExAC_delZ : -1.45450427777896 ExAC_dupZ : 0.959452735507536 ExAC_synZ : 0.193058532972109 ExAC_misZ : -0.256665374053704 Closest_left : FITM2 Closest_right : HNF4A |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv16254073; dbVar:nssv17683423 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44149494-44450551; 20:44352548-44358480 po_P_loss_percent : 0.02; 0.03; 0.03; 0.16; 1.26; 33.19 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:44353935-44354036 dbVar po_B_loss_someG_coord : chr20:44351345-44351430 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.560 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:44354187-44354447 Repeat_type_right : AluSg Gap_right : . GC_content_right : 0.425 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3782 |
splitAnnotation_mode : split |
R3HDMLGene_name : R3HDML; LOEUF_bin : 7 GnomAD_pLI : 1.8840e-06 ExAC_pLI : 2.9962e-03 HI : . TS : . DDD_HI_percent : 63.29 ACMG : . ExAC_cnvZ : -0.144496452166577 ExAC_delZ : -1.45450427777896 ExAC_dupZ : 0.959452735507536 ExAC_synZ : 0.193058532972109 ExAC_misZ : -0.256665374053704 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140902 |
exon5-txEndLocation : exon5-txEnd CytoBand : q13.12 Location2 : CDS-3'UTR Tx : NM_178491 Tx_version : 4 Tx_start : 44337042 Tx_end : 44351238 Exon_count : 5 Overlapped_tx_length : 504 Overlapped_CDS_length : 58 Overlapped_CDS_percent : 7 Frameshift : yes Dist_nearest_SS : 75 Nearest_SS_type : 3' Intersect_start : 44350734 Intersect_end : 44351238 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3782 |
splitAnnotation_mode : split |
R3HDML-AS1Gene_name : R3HDML-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105372629 |
intron1-exon3Location : intron1-exon3 CytoBand : q13.12 Location2 : UTR Tx : NR_184036 Tx_version : 1 Tx_start : 44347551 Tx_end : 44355242 Exon_count : 4 Overlapped_tx_length : 3782 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 115 Nearest_SS_type : 5' Intersect_start : 44350734 Intersect_end : 44354516 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 2 |
fullAnnotation_mode : full |
LOC101927182; PTPRT; [...2genes]Gene_name : LOC101927182; PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 Closest_left : LOC105372622 Closest_right : LOC105372624 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:42087244-42087546; 20:42087547-42087559; 20:42087579-42087593; 20:42087594-42087895 Repeat_type_left : AluSc8; (ATT)n; (AGA)n; AluSg4 Gap_left : . GC_content_left : 0.550 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.575 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ACMG : . ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11122 |
intron27-intron27Location : intron27-intron27 CytoBand : q12 Location2 : CDS Tx : XM_047439848 Tx_version : 1 Tx_start : 42031889 Tx_end : 43189906 Exon_count : 32 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1688 Nearest_SS_type : 3' Intersect_start : 42087541 Intersect_end : 42088041 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
LOC101927182Gene_name : LOC101927182; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : q12 Location2 : UTR Tx : XR_001754611 Tx_version : 2 Tx_start : 41903847 Tx_end : 42108504 Exon_count : 6 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2537 Nearest_SS_type : 3' Intersect_start : 42087541 Intersect_end : 42088041 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 35753 Gene_count : 2 |
fullAnnotation_mode : full |
LOC101927098; SNORD154; [...2genes]Gene_name : LOC101927098; SNORD154; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MAFB Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.23; 0.29; 0.30 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40748904-40749123 Repeat_type_right : MamRep564 Gap_right : . GC_content_right : 0.490 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 35753 |
splitAnnotation_mode : split |
LOC101927098Gene_name : LOC101927098; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-intron3Location : txStart-intron3 CytoBand : q12 Location2 : UTR Tx : NR_187686 Tx_version : 1 Tx_start : 40696848 Tx_end : 40717430 Exon_count : 5 Overlapped_tx_length : 4360 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1241 Nearest_SS_type : 5' Intersect_start : 40713070 Intersect_end : 40717430 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 35753 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_145814 Tx_version : 1 Tx_start : 40714571 Tx_end : 40714623 Exon_count : 1 Overlapped_tx_length : 52 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40714571 Intersect_end : 40714623 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 20387 Gene_count : 2 |
fullAnnotation_mode : full |
LOC101927098; SNORD154; [...2genes]Gene_name : LOC101927098; SNORD154; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MAFB Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.13; 0.16; 0.17 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40732950-40733639 Repeat_type_right : L1M6 Gap_right : . GC_content_right : 0.345 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 20387 |
splitAnnotation_mode : split |
LOC101927098Gene_name : LOC101927098; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-intron3Location : txStart-intron3 CytoBand : q12 Location2 : UTR Tx : NR_187686 Tx_version : 1 Tx_start : 40696848 Tx_end : 40717430 Exon_count : 5 Overlapped_tx_length : 4360 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1241 Nearest_SS_type : 5' Intersect_start : 40713070 Intersect_end : 40717430 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 20387 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_145814 Tx_version : 1 Tx_start : 40714571 Tx_end : 40714623 Exon_count : 1 Overlapped_tx_length : 52 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40714571 Intersect_end : 40714623 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 38553 Gene_count : 2 |
fullAnnotation_mode : full |
LOC101927098; SNORD154; [...2genes]Gene_name : LOC101927098; SNORD154; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MAFB Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.25; 0.31; 0.33 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40710146-40710396 Repeat_type_left : MIR Gap_left : . GC_content_left : 0.355 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40748904-40749123 Repeat_type_right : MamRep564 Gap_right : . GC_content_right : 0.490 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 38553 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_145814 Tx_version : 1 Tx_start : 40714571 Tx_end : 40714623 Exon_count : 1 Overlapped_tx_length : 52 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40714571 Intersect_end : 40714623 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 38553 |
splitAnnotation_mode : split |
LOC101927098Gene_name : LOC101927098; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-intron4Location : txStart-intron4 CytoBand : q12 Location2 : UTR Tx : NR_187686 Tx_version : 1 Tx_start : 40696848 Tx_end : 40717430 Exon_count : 5 Overlapped_tx_length : 7160 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 494 Nearest_SS_type : 5' Intersect_start : 40710270 Intersect_end : 40717430 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 28951 Gene_count : 2 |
fullAnnotation_mode : full |
LOC101927098; SNORD154; [...2genes]Gene_name : LOC101927098; SNORD154; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MAFB Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.19; 0.23; 0.24 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40710146-40710396 Repeat_type_left : MIR Gap_left : . GC_content_left : 0.355 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.385 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 28951 |
splitAnnotation_mode : split |
LOC101927098Gene_name : LOC101927098; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-intron4Location : txStart-intron4 CytoBand : q12 Location2 : UTR Tx : NR_187686 Tx_version : 1 Tx_start : 40696848 Tx_end : 40717430 Exon_count : 5 Overlapped_tx_length : 7160 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 494 Nearest_SS_type : 5' Intersect_start : 40710270 Intersect_end : 40717430 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 28951 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_145814 Tx_version : 1 Tx_start : 40714571 Tx_end : 40714623 Exon_count : 1 Overlapped_tx_length : 52 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40714571 Intersect_end : 40714623 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 23187 Gene_count : 2 |
fullAnnotation_mode : full |
LOC101927098; SNORD154; [...2genes]Gene_name : LOC101927098; SNORD154; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MAFB Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.15; 0.19; 0.20 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40710146-40710396 Repeat_type_left : MIR Gap_left : . GC_content_left : 0.355 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40732950-40733639 Repeat_type_right : L1M6 Gap_right : . GC_content_right : 0.345 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 23187 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_145814 Tx_version : 1 Tx_start : 40714571 Tx_end : 40714623 Exon_count : 1 Overlapped_tx_length : 52 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40714571 Intersect_end : 40714623 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 23187 |
splitAnnotation_mode : split |
LOC101927098Gene_name : LOC101927098; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-intron4Location : txStart-intron4 CytoBand : q12 Location2 : UTR Tx : NR_187686 Tx_version : 1 Tx_start : 40696848 Tx_end : 40717430 Exon_count : 5 Overlapped_tx_length : 7160 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 494 Nearest_SS_type : 5' Intersect_start : 40710270 Intersect_end : 40717430 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6027 Gene_count : 2 |
fullAnnotation_mode : full |
DSN1; LOC124904894; [...2genes]Gene_name : DSN1; LOC124904894; LOEUF_bin : 5 GnomAD_pLI : 8.8514e-08 ExAC_pLI : 1.7236e-06 HI : . TS : . DDD_HI_percent : 39.3 ExAC_cnvZ : -0.902961652516508 ExAC_delZ : -2.25532262459 ExAC_dupZ : 0.146828913675919 ExAC_synZ : 0.695684675093976 ExAC_misZ : 0.330551369029732 Closest_left : NDRG3 Closest_right : MTCL2 |
.Location : . CytoBand : q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SRC (morbid/RE=EA_enhancer); SAMHD1 (morbid/R[...]RE_gene : SRC (morbid/RE=EA_enhancer); SAMHD1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.04; 0.18; 0.05; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:36770578-36770703 Repeat_type_left : FLAM_A Gap_left : . GC_content_left : 0.425 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:36776443-36776740; 20:36776741-36777118 Repeat_type_right : AluSp; MLT1F Gap_right : . GC_content_right : 0.550 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6027 |
splitAnnotation_mode : split |
DSN1Gene_name : DSN1; LOEUF_bin : 5 GnomAD_pLI : 8.8514e-08 ExAC_pLI : 1.7236e-06 HI : . TS : . DDD_HI_percent : 39.3 ACMG : . ExAC_cnvZ : -0.902961652516508 ExAC_delZ : -2.25532262459 ExAC_dupZ : 0.146828913675919 ExAC_synZ : 0.695684675093976 ExAC_misZ : 0.330551369029732 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79980 |
txStart-intron3Location : txStart-intron3 CytoBand : q11.23 Location2 : 5'UTR-CDS Tx : NM_001145315 Tx_version : 2 Tx_start : 36751794 Tx_end : 36773763 Exon_count : 11 Overlapped_tx_length : 3049 Overlapped_CDS_length : 355 Overlapped_CDS_percent : 33 Frameshift : yes Dist_nearest_SS : 158 Nearest_SS_type : 5' Intersect_start : 36770714 Intersect_end : 36773763 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6027 |
splitAnnotation_mode : split |
LOC124904894Gene_name : LOC124904894; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-intron1Location : txStart-intron1 CytoBand : q11.23 Location2 : UTR Tx : XR_007067574 Tx_version : 1 Tx_start : 36775134 Tx_end : 36777092 Exon_count : 2 Overlapped_tx_length : 1607 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 63 Nearest_SS_type : 3' Intersect_start : 36775134 Intersect_end : 36776741 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 2 |
fullAnnotation_mode : full |
EPB41L1; EPB41L1-AS1; [...2genes]Gene_name : EPB41L1; EPB41L1-AS1; LOEUF_bin : 1 GnomAD_pLI : 8.7683e-01 ExAC_pLI : 6.4539e-01 HI : . TS : . DDD_HI_percent : 14.68 ExAC_cnvZ : -0.561625519817853 ExAC_delZ : -2.18179646605149 ExAC_dupZ : 0.888946118316426 ExAC_synZ : 0.938713644808799 ExAC_misZ : 2.47478471649415 Closest_left : NORAD Closest_right : LOC124904893 |
.Location : . CytoBand : q11.23 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.00; 0.01; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:36150792-36150905; 20:36150988-36151087 Repeat_type_left : L2c; MIR3 Gap_left : . GC_content_left : 0.555 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:36151343-36151470 Repeat_type_right : MIRc Gap_right : . GC_content_right : 0.450 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
EPB41L1Gene_name : EPB41L1; LOEUF_bin : 1 GnomAD_pLI : 8.7683e-01 ExAC_pLI : 6.4539e-01 HI : . TS : . DDD_HI_percent : 14.68 ACMG : . ExAC_cnvZ : -0.561625519817853 ExAC_delZ : -2.18179646605149 ExAC_dupZ : 0.888946118316426 ExAC_synZ : 0.938713644808799 ExAC_misZ : 2.47478471649415 GenCC_disease : autosomal dominant non-syndromic intellectual disability; complex neurodevelopmental disorder; intellectual disability, autosomal dominant 40 GenCC_moi : AD GenCC_classification : Limited; Supportive GenCC_pmid : 21376300; 21376300[PMID] NCBI_gene_ID : 2036 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.23 Location2 : 5'UTR Tx : NM_001258331 Tx_version : 2 Tx_start : 36091413 Tx_end : 36232799 Exon_count : 20 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 24096 Nearest_SS_type : 3' Intersect_start : 36150954 Intersect_end : 36151454 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
EPB41L1-AS1Gene_name : EPB41L1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100130373 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.23 Location2 : UTR Tx : NR_147703 Tx_version : 1 Tx_start : 36147280 Tx_end : 36155760 Exon_count : 4 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1044 Nearest_SS_type : 3' Intersect_start : 36150954 Intersect_end : 36151454 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 51998 Gene_count : 2 |
fullAnnotation_mode : full |
RBM39; PHF20; [...2genes]Gene_name : RBM39; PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 1.00355903616856 ExAC_misZ : 4.74208284095117 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.34; 1.53; 0.42; 1.76 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35736655-35736950 Repeat_type_left : AluSc Gap_left : . GC_content_left : 0.500 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35788587-35788874 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.520 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 51998 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
txStart-intron3Location : txStart-intron3 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_001242599 Tx_version : 2 Tx_start : 35701346 Tx_end : 35742260 Exon_count : 16 Overlapped_tx_length : 5510 Overlapped_CDS_length : 101 Overlapped_CDS_percent : 6 Frameshift : yes Dist_nearest_SS : 2217 Nearest_SS_type : 5' Intersect_start : 35736750 Intersect_end : 35742260 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 51998 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 16734 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 12742 Nearest_SS_type : 3' Intersect_start : 35772014 Intersect_end : 35788748 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 71831 Gene_count : 2 |
fullAnnotation_mode : full |
RBM39; PHF20; [...2genes]Gene_name : RBM39; PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 1.00355903616856 ExAC_misZ : 4.74208284095117 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22-q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.47; 2.12; 0.58; 3.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar; po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar; chr20:35791156-35799958 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35802656-35802959 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.510 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 71831 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
txStart-intron4Location : txStart-intron4 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_001242599 Tx_version : 2 Tx_start : 35701346 Tx_end : 35742260 Exon_count : 16 Overlapped_tx_length : 11445 Overlapped_CDS_length : 296 Overlapped_CDS_percent : 19 Frameshift : yes Dist_nearest_SS : 1125 Nearest_SS_type : 5' Intersect_start : 35730815 Intersect_end : 35742260 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 71831 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
txStart-intron2Location : txStart-intron2 CytoBand : q11.22-q11.23 Location2 : 5'UTR-CDS Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 30632 Overlapped_CDS_length : 83 Overlapped_CDS_percent : 2 Frameshift : yes Dist_nearest_SS : 1041 Nearest_SS_type : 5' Intersect_start : 35772014 Intersect_end : 35802646 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 57933 Gene_count : 2 |
fullAnnotation_mode : full |
RBM39; PHF20; [...2genes]Gene_name : RBM39; PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 1.00355903616856 ExAC_misZ : 4.74208284095117 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.38; 1.71; 0.47; 3.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar; chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar; chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35788587-35788874 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.520 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 57933 Gene_count : 2 |
fullAnnotation_mode : full |
RBM39; PHF20; [...2genes]Gene_name : RBM39; PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 1.00355903616856 ExAC_misZ : 4.74208284095117 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.38; 1.71; 0.47; 3.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar; chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar; chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35788587-35788874 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.520 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 57933 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 16734 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 12742 Nearest_SS_type : 3' Intersect_start : 35772014 Intersect_end : 35788748 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 57933 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
txStart-intron4Location : txStart-intron4 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_001242599 Tx_version : 2 Tx_start : 35701346 Tx_end : 35742260 Exon_count : 16 Overlapped_tx_length : 11445 Overlapped_CDS_length : 296 Overlapped_CDS_percent : 19 Frameshift : yes Dist_nearest_SS : 1125 Nearest_SS_type : 5' Intersect_start : 35730815 Intersect_end : 35742260 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 57933 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 16734 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 12742 Nearest_SS_type : 3' Intersect_start : 35772014 Intersect_end : 35788748 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 57933 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
txStart-intron4Location : txStart-intron4 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_001242599 Tx_version : 2 Tx_start : 35701346 Tx_end : 35742260 Exon_count : 16 Overlapped_tx_length : 11445 Overlapped_CDS_length : 296 Overlapped_CDS_percent : 19 Frameshift : yes Dist_nearest_SS : 1125 Nearest_SS_type : 5' Intersect_start : 35730815 Intersect_end : 35742260 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 28599 Gene_count : 2 |
fullAnnotation_mode : full |
CPNE1; RBM12; [...2genes]Gene_name : CPNE1; RBM12; LOEUF_bin : 4 GnomAD_pLI : 2.1086e-03 ExAC_pLI : 4.7467e-01 HI : . TS : . DDD_HI_percent : 31.02 ExAC_cnvZ : -1.74880955339683 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.0224675137589206 ExAC_synZ : 0.497981592999118 ExAC_misZ : 0.843417796536372 Closest_left : SPAG4 Closest_right : NFS1 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
PIGU (morbid/RE=EA_enhancer); GSS (morbid/RE=[...]RE_gene : PIGU (morbid/RE=EA_enhancer); GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.19; 0.92; 0.84; 0.23; 6.23 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.585 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 28599 |
splitAnnotation_mode : split |
RBM12Gene_name : RBM12; LOEUF_bin : 4 GnomAD_pLI : 2.1086e-03 ExAC_pLI : 4.7467e-01 HI : . TS : . DDD_HI_percent : 14.23 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.047566760715049 ExAC_misZ : 0.843417796536372 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10137 |
intron1-txEndLocation : intron1-txEnd CytoBand : q11.22 Location2 : 5'UTR-3'UTR Tx : NM_001198838 Tx_version : 2 Tx_start : 35648924 Tx_end : 35664900 Exon_count : 3 Overlapped_tx_length : 15237 Overlapped_CDS_length : 2799 Overlapped_CDS_percent : 99 Frameshift : no Dist_nearest_SS : 640 Nearest_SS_type : 5' Intersect_start : 35648924 Intersect_end : 35664161 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 28599 |
splitAnnotation_mode : split |
CPNE1Gene_name : CPNE1; LOEUF_bin : 6 GnomAD_pLI : 1.7292e-14 ExAC_pLI : 3.8710e-07 HI : . TS : . DDD_HI_percent : 31.02 ACMG : . ExAC_cnvZ : -1.74880955339683 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.0224675137589206 ExAC_synZ : 0.497981592999118 ExAC_misZ : 0.0619532546152601 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8904 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_003915 Tx_version : 6 Tx_start : 35626043 Tx_end : 35653909 Exon_count : 16 Overlapped_tx_length : 18347 Overlapped_CDS_length : 15 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2639 Nearest_SS_type : 3' Intersect_start : 35635562 Intersect_end : 35653909 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 21570 Gene_count : 2 |
fullAnnotation_mode : full |
C20orf173; ERGIC3; [...2genes]Gene_name : C20orf173; ERGIC3; LOEUF_bin : 4 GnomAD_pLI : 2.2416e-05 ExAC_pLI : 3.8591e-03 HI : . TS : . DDD_HI_percent : 90.45 ExAC_cnvZ : -0.754597917507887 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.37434719683734 ExAC_synZ : 0.688530072870984 ExAC_misZ : 2.22740356986199 Closest_left : CEP250-AS1 Closest_right : FER1L4 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
PIGU (morbid/RE=EA_enhancer); GSS (morbid/RE=[...]RE_gene : PIGU (morbid/RE=EA_enhancer); GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.14; 0.70; 0.64; 0.17; 4.70 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35539312-35539335 HPRC:pbsv.DEL.2789 po_B_loss_someG_coord : chr20:35539287-35539335 HPRC:pbsv.DEL.2788 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35526345-35526650; 20:35526653-35526945 Repeat_type_left : AluJr; L1MEd Gap_left : . GC_content_left : 0.450 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35548025-35548166; 20:35548196-35548318 Repeat_type_right : L1MB4; FLAM_C Gap_right : . GC_content_right : 0.455 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 21570 |
splitAnnotation_mode : split |
ERGIC3Gene_name : ERGIC3; LOEUF_bin : 4 GnomAD_pLI : 2.2416e-05 ExAC_pLI : 3.8591e-03 HI : . TS : . DDD_HI_percent : 32.69 ACMG : . ExAC_cnvZ : -0.754597917507887 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.37434719683734 ExAC_synZ : 0.688530072870984 ExAC_misZ : 2.22740356986199 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51614 |
txStart-intron5Location : txStart-intron5 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_015966 Tx_version : 3 Tx_start : 35542077 Tx_end : 35557634 Exon_count : 13 Overlapped_tx_length : 6095 Overlapped_CDS_length : 461 Overlapped_CDS_percent : 40 Frameshift : yes Dist_nearest_SS : 336 Nearest_SS_type : 3' Intersect_start : 35542077 Intersect_end : 35548172 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 21570 |
splitAnnotation_mode : split |
C20orf173Gene_name : C20orf173; LOEUF_bin : 7 GnomAD_pLI : 1.0938e-06 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 90.45 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140873 |
txStart-intron6Location : txStart-intron6 CytoBand : q11.22 Location2 : 5'UTR-3'UTR Tx : XM_047439904 Tx_version : 1 Tx_start : 35520806 Tx_end : 35529652 Exon_count : 12 Overlapped_tx_length : 3050 Overlapped_CDS_length : 609 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : 443 Nearest_SS_type : 5' Intersect_start : 35526602 Intersect_end : 35529652 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 13516 Gene_count : 2 |
fullAnnotation_mode : full |
BPIFA1; LOC105372593; [...2genes]Gene_name : BPIFA1; LOC105372593; LOEUF_bin : 8 GnomAD_pLI : 1.1971e-08 ExAC_pLI : 3.6015e-05 HI : . TS : . DDD_HI_percent : 88.4 ExAC_cnvZ : -1.91417061298326 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.394454859485159 ExAC_synZ : -0.855825031903058 ExAC_misZ : -1.43409551047864 Closest_left : BPIFA3 Closest_right : BPIFB1 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288 po_P_loss_percent : 0.09; 0.44 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:33243906-33243958 dbVar po_B_loss_someG_coord : chr20:33231502-33233225 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33231364-33231659; 20:33231749-33231858 Repeat_type_left : AluJb; MIRc Gap_left : . GC_content_left : 0.510 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33245149-33245487 Repeat_type_right : AluJo Gap_right : . GC_content_right : 0.425 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 13516 |
splitAnnotation_mode : split |
BPIFA1Gene_name : BPIFA1; LOEUF_bin : 8 GnomAD_pLI : 1.1971e-08 ExAC_pLI : 3.6015e-05 HI : . TS : . DDD_HI_percent : 88.4 ACMG : . ExAC_cnvZ : -1.91417061298326 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.394454859485159 ExAC_synZ : -0.855825031903058 ExAC_misZ : -1.43409551047864 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51297 |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.21 Location2 : 5'UTR-3'UTR Tx : NM_001243193 Tx_version : 2 Tx_start : 33235995 Tx_end : 33243306 Exon_count : 9 Overlapped_tx_length : 7311 Overlapped_CDS_length : 771 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 33235995 Intersect_end : 33243306 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 13516 |
splitAnnotation_mode : split |
LOC105372593Gene_name : LOC105372593; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-txEndLocation : intron1-txEnd CytoBand : q11.21 Location2 : UTR Tx : XR_936683 Tx_version : 2 Tx_start : 33242547 Tx_end : 33257496 Exon_count : 3 Overlapped_tx_length : 2685 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1747 Nearest_SS_type : 3' Intersect_start : 33242547 Intersect_end : 33245232 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 42738 Gene_count : 2 |
fullAnnotation_mode : full |
BPIFB3; BPIFB4; [...2genes]Gene_name : BPIFB3; BPIFB4; LOEUF_bin : 7 GnomAD_pLI : 3.6763e-13 ExAC_pLI : 1.2701e-05 HI : . TS : . DDD_HI_percent : 72.06 ExAC_cnvZ : -1.5926808300207 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.247525500012051 ExAC_synZ : 0.148474694246789 ExAC_misZ : -0.676082883446531 Closest_left : BPIFB6 Closest_right : LOC105372714 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
DNMT3B (morbid/RE=EA_enhancer); RE_gene : DNMT3B (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288 po_P_loss_percent : 0.28; 1.38 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:33064626-33075377 dbVar; chr20:33086422-33086475 dbVar; po_B_loss_someG_coord : chr20:33052542-33052566 HPRC:pbsv.DEL.2623; chr20:33074267-33077556 dbVar; chr20:33086566-33087384 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33049585-33049710 Repeat_type_left : MIRc Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.555 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 42738 |
splitAnnotation_mode : split |
BPIFB4Gene_name : BPIFB4; LOEUF_bin : 7 GnomAD_pLI : 4.6976e-21 ExAC_pLI : 3.4659e-17 HI : . TS : . DDD_HI_percent : 69.82 ACMG : . ExAC_cnvZ : -1.76721570748308 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.423619863791745 ExAC_synZ : -0.579456501887006 ExAC_misZ : -1.19098729274072 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 149954 |
txStart-intron10Location : txStart-intron10 CytoBand : q11.21 Location2 : 5'UTR-CDS Tx : NM_182519 Tx_version : 3 Tx_start : 33079642 Tx_end : 33111751 Exon_count : 18 Overlapped_tx_length : 12742 Overlapped_CDS_length : 1143 Overlapped_CDS_percent : 61 Frameshift : no Dist_nearest_SS : 73 Nearest_SS_type : 3' Intersect_start : 33079642 Intersect_end : 33092384 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 42738 |
splitAnnotation_mode : split |
BPIFB3Gene_name : BPIFB3; LOEUF_bin : 7 GnomAD_pLI : 3.6763e-13 ExAC_pLI : 1.2701e-05 HI : . TS : . DDD_HI_percent : 72.06 ACMG : . ExAC_cnvZ : -1.5926808300207 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.247525500012051 ExAC_synZ : 0.148474694246789 ExAC_misZ : -0.676082883446531 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 359710 |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.21 Location2 : 5'UTR-3'UTR Tx : NM_001376932 Tx_version : 3 Tx_start : 33053902 Tx_end : 33073847 Exon_count : 16 Overlapped_tx_length : 19945 Overlapped_CDS_length : 1419 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 33053902 Intersect_end : 33073847 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 23747 Gene_count : 2 |
fullAnnotation_mode : full |
DEFB121; DEFB122; [...2genes]Gene_name : DEFB121; DEFB122; LOEUF_bin : 9 GnomAD_pLI : 9.6502e-02 ExAC_pLI : 3.1538e-02 HI : . TS : . DDD_HI_percent : 95.35 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -0.137729968293333 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -1.79680771224525 ExAC_misZ : -0.364963039363491 Closest_left : DEFB119 Closest_right : DEFB123 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:31426382-31426444 dbVar po_B_loss_someG_coord : chr20:31418230-31418284 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:31413420-31413795 Repeat_type_left : MLT1I Gap_left : . GC_content_left : 0.465 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:31436885-31437135; 20:31437246-31437543 Repeat_type_right : L2a; AluSz6 Gap_right : . GC_content_right : 0.450 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 23747 |
splitAnnotation_mode : split |
DEFB121Gene_name : DEFB121; LOEUF_bin : 9 GnomAD_pLI : 9.6502e-02 ExAC_pLI : 3.1538e-02 HI : . TS : . DDD_HI_percent : 95.35 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -0.137729968293333 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -1.79680771224525 ExAC_misZ : -0.364963039363491 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 245934 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.21 Location2 : 5'UTR Tx : XM_005260383 Tx_version : 3 Tx_start : 31404844 Tx_end : 31418522 Exon_count : 4 Overlapped_tx_length : 5043 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 308 Nearest_SS_type : 3' Intersect_start : 31413479 Intersect_end : 31418522 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 23747 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.21 Location2 : UTR Tx : NR_045677 Tx_version : 1 Tx_start : 31421438 Tx_end : 31429180 Exon_count : 3 Overlapped_tx_length : 7742 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31421438 Intersect_end : 31429180 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 43101 Gene_count : 2 |
fullAnnotation_mode : full |
DZANK1; LOC124904877; [...2genes]Gene_name : DZANK1; LOC124904877; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LINC00851 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789 po_P_loss_percent : 0.32; 1.18 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:18435052-18435114 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18392818-18393338 Repeat_type_left : HAL1ME Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18435833-18436309 Repeat_type_right : L1M4a2 Gap_right : . GC_content_right : 0.315 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 43101 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron1-intron10Location : intron1-intron10 CytoBand : p11.23 Location2 : CDS Tx : XM_017027921 Tx_version : 3 Tx_start : 18383366 Tx_end : 18442927 Exon_count : 14 Overlapped_tx_length : 43101 Overlapped_CDS_length : 1080 Overlapped_CDS_percent : 70 Frameshift : no Dist_nearest_SS : 672 Nearest_SS_type : 5' Intersect_start : 18393038 Intersect_end : 18436139 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 43101 |
splitAnnotation_mode : split |
LOC124904877Gene_name : LOC124904877; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-txEndLocation : intron1-txEnd CytoBand : p11.23 Location2 : UTR Tx : XR_007067546 Tx_version : 1 Tx_start : 18389823 Tx_end : 18400109 Exon_count : 2 Overlapped_tx_length : 7071 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3020 Nearest_SS_type : 5' Intersect_start : 18393038 Intersect_end : 18400109 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3181 Gene_count : 2 |
fullAnnotation_mode : full |
DZANK1; LOC124904877; [...2genes]Gene_name : DZANK1; LOC124904877; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LINC00851 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789 po_P_loss_percent : 0.02; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18392818-18393338 Repeat_type_left : HAL1ME Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.360 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3181 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron7-intron9Location : intron7-intron9 CytoBand : p11.23 Location2 : CDS Tx : XM_011529277 Tx_version : 3 Tx_start : 18383366 Tx_end : 18432929 Exon_count : 13 Overlapped_tx_length : 3181 Overlapped_CDS_length : 198 Overlapped_CDS_percent : 15 Frameshift : no Dist_nearest_SS : 252 Nearest_SS_type : 5' Intersect_start : 18393038 Intersect_end : 18396219 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3181 |
splitAnnotation_mode : split |
LOC124904877Gene_name : LOC124904877; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : p11.23 Location2 : UTR Tx : XR_007067546 Tx_version : 1 Tx_start : 18389823 Tx_end : 18400109 Exon_count : 2 Overlapped_tx_length : 3181 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3020 Nearest_SS_type : 5' Intersect_start : 18393038 Intersect_end : 18396219 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2202 Gene_count : 2 |
fullAnnotation_mode : full |
DZANK1; LOC124904877; [...2genes]Gene_name : DZANK1; LOC124904877; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LINC00851 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789 po_P_loss_percent : 0.02; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18392818-18393338 Repeat_type_left : HAL1ME Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18395082-18395380 Repeat_type_right : AluSz6 Gap_right : . GC_content_right : 0.530 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2202 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron7-intron9Location : intron7-intron9 CytoBand : p11.23 Location2 : CDS Tx : XM_011529277 Tx_version : 3 Tx_start : 18383366 Tx_end : 18432929 Exon_count : 13 Overlapped_tx_length : 2202 Overlapped_CDS_length : 198 Overlapped_CDS_percent : 15 Frameshift : no Dist_nearest_SS : 672 Nearest_SS_type : 5' Intersect_start : 18393038 Intersect_end : 18395240 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2202 |
splitAnnotation_mode : split |
LOC124904877Gene_name : LOC124904877; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : p11.23 Location2 : UTR Tx : XR_007067546 Tx_version : 1 Tx_start : 18389823 Tx_end : 18400109 Exon_count : 2 Overlapped_tx_length : 2202 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3020 Nearest_SS_type : 5' Intersect_start : 18393038 Intersect_end : 18395240 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 2 |
fullAnnotation_mode : full |
DZANK1; LOC124904877; [...2genes]Gene_name : DZANK1; LOC124904877; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LINC00851 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789 po_P_loss_percent : 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18392818-18393338 Repeat_type_left : HAL1ME Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18393368-18393655 Repeat_type_right : HAL1ME Gap_right : . GC_content_right : 0.360 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron9-intron9Location : intron9-intron9 CytoBand : p11.23 Location2 : CDS Tx : XM_011529277 Tx_version : 3 Tx_start : 18383366 Tx_end : 18432929 Exon_count : 13 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 172 Nearest_SS_type : 5' Intersect_start : 18393038 Intersect_end : 18393538 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
LOC124904877Gene_name : LOC124904877; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : p11.23 Location2 : UTR Tx : XR_007067546 Tx_version : 1 Tx_start : 18389823 Tx_end : 18400109 Exon_count : 2 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3020 Nearest_SS_type : 5' Intersect_start : 18393038 Intersect_end : 18393538 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3438 Gene_count : 2 |
fullAnnotation_mode : full |
SNAP25-AS1; ANKEF1; [...2genes]Gene_name : SNAP25-AS1; ANKEF1; LOEUF_bin : 5 GnomAD_pLI : 8.5371e-10 ExAC_pLI : 2.7519e-09 HI : . TS : . DDD_HI_percent : 58.59 ExAC_cnvZ : 0.361273203203079 ExAC_delZ : 0.229931534382449 ExAC_dupZ : 0.301691348625178 ExAC_synZ : -0.213721382062144 ExAC_misZ : 0.223656990656899 Closest_left : PARAL1 Closest_right : LOC105372524 |
.Location : . CytoBand : p12.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567; dbVar:nssv15147284 po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012; 20:9550976-12083434 po_P_loss_percent : 0.02; 0.04; 0.04; 0.05; 0.10; 0.03; 0.14 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:10031499-10032925 Repeat_type_left : LTR12C Gap_left : . GC_content_left : 0.710 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:10035517-10035756 Repeat_type_right : MIR Gap_right : . GC_content_right : 0.410 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3438 |
splitAnnotation_mode : split |
ANKEF1Gene_name : ANKEF1; LOEUF_bin : 5 GnomAD_pLI : 8.5371e-10 ExAC_pLI : 2.7519e-09 HI : . TS : . DDD_HI_percent : 58.59 ACMG : . ExAC_cnvZ : 0.361273203203079 ExAC_delZ : 0.229931534382449 ExAC_dupZ : 0.301691348625178 ExAC_synZ : -0.213721382062144 ExAC_misZ : 0.223656990656899 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 63926 |
txStart-intron1Location : txStart-intron1 CytoBand : p12.2 Location2 : 5'UTR Tx : NM_001303472 Tx_version : 2 Tx_start : 10034986 Tx_end : 10058303 Exon_count : 11 Overlapped_tx_length : 511 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 164 Nearest_SS_type : 5' Intersect_start : 10034986 Intersect_end : 10035497 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3438 |
splitAnnotation_mode : split |
SNAP25-AS1Gene_name : SNAP25-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100131208 |
intron3-intron3Location : intron3-intron3 CytoBand : p12.2 Location2 : UTR Tx : NR_040710 Tx_version : 1 Tx_start : 10023811 Tx_end : 10219506 Exon_count : 5 Overlapped_tx_length : 3438 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5411 Nearest_SS_type : 3' Intersect_start : 10032059 Intersect_end : 10035497 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5640 Gene_count : 2 |
fullAnnotation_mode : full |
TRMT6; MCM8; [...2genes]Gene_name : TRMT6; MCM8; LOEUF_bin : 4 GnomAD_pLI : 2.4031e-05 ExAC_pLI : 4.9253e-04 HI : . TS : . DDD_HI_percent : 32.62 ExAC_cnvZ : 1.01754506009196 ExAC_delZ : 0.650584181385956 ExAC_dupZ : 0.973808958628458 ExAC_synZ : -0.868768220033901 ExAC_misZ : 0.968408915204078 Closest_left : CHGB Closest_right : MCM8-AS1 |
.Location : . CytoBand : p12.3 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857 po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370 po_P_loss_percent : 0.10; 0.04; 0.07; 0.22; 0.07; 4.90 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:5947774-5947980 Repeat_type_left : AluJb Gap_left : . GC_content_left : 0.495 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:5953439-5953471; 20:5953477-5953772 Repeat_type_right : (GT)n; AluY Gap_right : . GC_content_right : 0.460 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 5640 |
splitAnnotation_mode : split |
TRMT6Gene_name : TRMT6; LOEUF_bin : 4 GnomAD_pLI : 2.4031e-05 ExAC_pLI : 4.9253e-04 HI : . TS : . DDD_HI_percent : 32.62 ACMG : . ExAC_cnvZ : 1.01754506009196 ExAC_delZ : 0.650584181385956 ExAC_dupZ : 0.973808958628458 ExAC_synZ : -0.868768220033901 ExAC_misZ : 0.968408915204078 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51605 |
txStart-intron1Location : txStart-intron1 CytoBand : p12.3 Location2 : 5'UTR-CDS Tx : NM_015939 Tx_version : 5 Tx_start : 5937227 Tx_end : 5950533 Exon_count : 11 Overlapped_tx_length : 2703 Overlapped_CDS_length : 128 Overlapped_CDS_percent : 8 Frameshift : yes Dist_nearest_SS : 1297 Nearest_SS_type : 3' Intersect_start : 5947830 Intersect_end : 5950533 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 5640 |
splitAnnotation_mode : split |
MCM8Gene_name : MCM8; LOEUF_bin : 5 GnomAD_pLI : 1.0536e-16 ExAC_pLI : 1.9289e-10 HI : . TS : . DDD_HI_percent : 0.31 ACMG : . ExAC_cnvZ : 0.670689793926319 ExAC_delZ : 0.0652954789617851 ExAC_dupZ : 0.894892763763837 ExAC_synZ : -0.951232916035886 ExAC_misZ : -0.0604974802456897 GenCC_disease : premature ovarian failure 10 GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 22771120; 251316; 251370; 25437880; 25873734; 27573988; 27802094; 282878; 28863940; 31042289 NCBI_gene_ID : 84515 |
txStart-intron3Location : txStart-intron3 CytoBand : p12.3 Location2 : 5'UTR-CDS Tx : XM_047440554 Tx_version : 1 Tx_start : 5950651 Tx_end : 5977967 Exon_count : 14 Overlapped_tx_length : 2819 Overlapped_CDS_length : 253 Overlapped_CDS_percent : 17 Frameshift : yes Dist_nearest_SS : 942 Nearest_SS_type : 5' Intersect_start : 5950651 Intersect_end : 5953470 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 15161 Gene_count : 2 |
fullAnnotation_mode : full |
CHGB; TRMT6; [...2genes]Gene_name : CHGB; TRMT6; LOEUF_bin : 4 GnomAD_pLI : 2.4031e-05 ExAC_pLI : 4.9253e-04 HI : . TS : . DDD_HI_percent : 72.37 ExAC_cnvZ : 1.01754506009196 ExAC_delZ : 0.650584181385956 ExAC_dupZ : 0.973808958628458 ExAC_synZ : -0.497922486404799 ExAC_misZ : 0.968408915204078 Closest_left : SHLD1 Closest_right : MCM8 |
.Location : . CytoBand : p12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857 po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370 po_P_loss_percent : 0.26; 0.11; 0.17; 0.59; 0.18; 13.18 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:5930628-5930652 HPRC:pbsv.DEL.590 po_B_loss_someG_coord : chr20:5926097-5926119 HPRC:pbsv.DEL.588 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:5924309-5924471 Repeat_type_left : MER5B Gap_left : . GC_content_left : 0.440 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.460 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 15161 |
splitAnnotation_mode : split |
CHGBGene_name : CHGB; LOEUF_bin : 4 GnomAD_pLI : 2.3622e-07 ExAC_pLI : 3.8164e-07 HI : . TS : . DDD_HI_percent : 72.37 ACMG : . ExAC_cnvZ : 0.338652320699006 ExAC_delZ : 0.214607002761655 ExAC_dupZ : 0.204801876710487 ExAC_synZ : -0.497922486404799 ExAC_misZ : -0.874076392144116 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1114 |
intron4-txEndLocation : intron4-txEnd CytoBand : p12.3 Location2 : CDS-3'UTR Tx : NM_001819 Tx_version : 3 Tx_start : 5911509 Tx_end : 5925353 Exon_count : 5 Overlapped_tx_length : 892 Overlapped_CDS_length : 78 Overlapped_CDS_percent : 3 Frameshift : no Dist_nearest_SS : 361 Nearest_SS_type : 5' Intersect_start : 5924461 Intersect_end : 5925353 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 15161 |
splitAnnotation_mode : split |
TRMT6Gene_name : TRMT6; LOEUF_bin : 4 GnomAD_pLI : 2.4031e-05 ExAC_pLI : 4.9253e-04 HI : . TS : . DDD_HI_percent : 32.62 ACMG : . ExAC_cnvZ : 1.01754506009196 ExAC_delZ : 0.650584181385956 ExAC_dupZ : 0.973808958628458 ExAC_synZ : -0.868768220033901 ExAC_misZ : 0.968408915204078 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51605 |
intron9-txEndLocation : intron9-txEnd CytoBand : p12.3 Location2 : CDS-3'UTR Tx : NM_001281467 Tx_version : 2 Tx_start : 5937227 Tx_end : 5950533 Exon_count : 10 Overlapped_tx_length : 2395 Overlapped_CDS_length : 192 Overlapped_CDS_percent : 19 Frameshift : no Dist_nearest_SS : 896 Nearest_SS_type : 3' Intersect_start : 5937227 Intersect_end : 5939622 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 15687 Gene_count : 2 |
fullAnnotation_mode : full |
NSFL1C; SIRPB2; [...2genes]Gene_name : NSFL1C; SIRPB2; LOEUF_bin : 3 GnomAD_pLI : 4.9492e-02 ExAC_pLI : 1.5936e-01 HI : . TS : . DDD_HI_percent : 87.76 ExAC_cnvZ : 0.432106698788576 ExAC_delZ : 1.24447787758637 ExAC_dupZ : -0.0425980585533429 ExAC_synZ : 0.782422922884333 ExAC_misZ : 1.4972246410269 Closest_left : LOC105372497 Closest_right : LOC105372499 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572 po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966 po_P_loss_percent : 0.99; 0.91; 0.89; 0.80; 0.71; 1.12; 0.93; 0.89; 0.85; 0.76; 0.72; 0.80 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.405 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.575 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 15687 |
splitAnnotation_mode : split |
NSFL1CGene_name : NSFL1C; LOEUF_bin : 3 GnomAD_pLI : 4.9492e-02 ExAC_pLI : 1.5936e-01 HI : . TS : . DDD_HI_percent : 32.36 ACMG : . ExAC_cnvZ : 0.432106698788576 ExAC_delZ : 1.24447787758637 ExAC_dupZ : -0.0425980585533429 ExAC_synZ : 0.782422922884333 ExAC_misZ : 1.4972246410269 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55968 |
txStart-intron4Location : txStart-intron4 CytoBand : p13 Location2 : 5'UTR-CDS Tx : XM_011529300 Tx_version : 3 Tx_start : 1442165 Tx_end : 1466849 Exon_count : 11 Overlapped_tx_length : 10367 Overlapped_CDS_length : 287 Overlapped_CDS_percent : 25 Frameshift : yes Dist_nearest_SS : 763 Nearest_SS_type : 3' Intersect_start : 1456482 Intersect_end : 1466849 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 15687 |
splitAnnotation_mode : split |
SIRPB2Gene_name : SIRPB2; LOEUF_bin : 6 GnomAD_pLI : 3.6633e-04 ExAC_pLI : 1.4588e-02 HI : . TS : . DDD_HI_percent : 87.76 ACMG : . ExAC_cnvZ : 0.0777203923105254 ExAC_delZ : 0.447750423492543 ExAC_dupZ : -0.179261984671716 ExAC_synZ : -0.691939623635092 ExAC_misZ : -0.469394932656968 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 284759 |
intron7-txEndLocation : intron7-txEnd CytoBand : p13 Location2 : UTR Tx : XR_007067453 Tx_version : 1 Tx_start : 1470684 Tx_end : 1491420 Exon_count : 8 Overlapped_tx_length : 1485 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 545 Nearest_SS_type : 5' Intersect_start : 1470684 Intersect_end : 1472169 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5216 Gene_count : 1 |
fullAnnotation_mode : full |
TAF4Gene_name : TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 Closest_left : LOC105372704 Closest_right : MIR3195 |
.Location : . CytoBand : q13.33 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Intellectual developmental disorder, AD 73, 620450 (3) AD po_P_loss_hpo : . po_P_loss_source : morbid:TAF4 po_P_loss_coord : 20:61974798-62065881 po_P_loss_percent : 5.73 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62049838-62049890 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.690 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 5216 |
splitAnnotation_mode : split |
TAF4Gene_name : TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ACMG : . ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6874 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.33 Location2 : CDS Tx : XM_047440429 Tx_version : 1 Tx_start : 61974797 Tx_end : 62065863 Exon_count : 16 Overlapped_tx_length : 5216 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 13230 Nearest_SS_type : 5' Intersect_start : 62046004 Intersect_end : 62051220 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 24712 Gene_count : 1 |
fullAnnotation_mode : full |
TAF4Gene_name : TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 Closest_left : MIR1257 Closest_right : LOC105372704 |
.Location : . CytoBand : q13.33 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Intellectual developmental disorder, AD 73, 620450 (3) AD po_P_loss_hpo : . po_P_loss_source : morbid:TAF4 po_P_loss_coord : 20:61974798-62065881 po_P_loss_percent : 7.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:61941788-61959104 dbVar; chr20:61969883-61969970 dbVar; 20:61970836-61971332 CMRI:1_pbsv.DEL.830_duplicate9; chr20:61970871-61970933 HPRC:pbsv.DEL.4999; 20:61971023-61971519 CMRI:29_pbsv.DEL.1674_duplicate4; chr20:61978043-61978108 dbVar; chr20:61978201-61978263 HPRC:pbsv.DEL.5006 po_B_loss_someG_coord : chr20:61939719-61962534 dbVar; chr20:61966679-61966709 HPRC:pbsv.DEL.4993; chr20:61970036-61972750 dbVar; 20:61970871-61970933 CMRI:2_pbsv.DEL.1167_duplicate9; chr20:61970905-61970966 dbVar; chr20:61977040-61977073 HPRC:pbsv.DEL.5005; 20:61978150-61978206 CMRI:26_pbsv.DEL.775_duplicate7 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:61956383-61956961 Repeat_type_left : LTR61 Gap_left : . GC_content_left : 0.430 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:61980879-61981683 Repeat_type_right : L1MC4 Gap_right : . GC_content_right : 0.515 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 24712 |
splitAnnotation_mode : split |
TAF4Gene_name : TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ACMG : . ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6874 |
intron15-txEndLocation : intron15-txEnd CytoBand : q13.33 Location2 : CDS-3'UTR Tx : XM_047440429 Tx_version : 1 Tx_start : 61974797 Tx_end : 62065863 Exon_count : 16 Overlapped_tx_length : 6456 Overlapped_CDS_length : 168 Overlapped_CDS_percent : 7 Frameshift : no Dist_nearest_SS : 4918 Nearest_SS_type : 3' Intersect_start : 61974797 Intersect_end : 61981253 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.2 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-4 (VAPB), +0.20: Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND no established pathogenic snv/indel have been reported in the observed CNV AND variant removes > 10% of protein 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1331 Gene_count : 1 |
fullAnnotation_mode : full |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 Closest_left : RAB22A Closest_right : APCDD1L |
.Location : . CytoBand : q13.32 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248; morbid:VAPB po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101 po_P_loss_percent : 0.05; 2.15 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.450 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1331 |
splitAnnotation_mode : split |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ACMG : . ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029 NCBI_gene_ID : 9217 |
intron4-intron5Location : intron4-intron5 CytoBand : q13.32 Location2 : CDS Tx : NM_004738 Tx_version : 5 Tx_start : 58389228 Tx_end : 58451101 Exon_count : 6 Overlapped_tx_length : 1331 Overlapped_CDS_length : 177 Overlapped_CDS_percent : 24 Frameshift : no Dist_nearest_SS : 343 Nearest_SS_type : 3' Intersect_start : 58440563 Intersect_end : 58441894 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.2 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-4 (VAPB), +0.20: Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND no established pathogenic snv/indel have been reported in the observed CNV AND variant removes > 10% of protein 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 935 Gene_count : 1 |
fullAnnotation_mode : full |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 Closest_left : RAB22A Closest_right : APCDD1L |
.Location : . CytoBand : q13.32 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248; morbid:VAPB po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101 po_P_loss_percent : 0.04; 1.51 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58441360-58441660 Repeat_type_right : AluSx3 Gap_right : . GC_content_right : 0.540 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 935 |
splitAnnotation_mode : split |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ACMG : . ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029 NCBI_gene_ID : 9217 |
intron4-intron5Location : intron4-intron5 CytoBand : q13.32 Location2 : CDS Tx : NM_004738 Tx_version : 5 Tx_start : 58389228 Tx_end : 58451101 Exon_count : 6 Overlapped_tx_length : 935 Overlapped_CDS_length : 177 Overlapped_CDS_percent : 24 Frameshift : no Dist_nearest_SS : 343 Nearest_SS_type : 3' Intersect_start : 58440563 Intersect_end : 58441498 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.2 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-4 (VAPB), +0.20: Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND no established pathogenic snv/indel have been reported in the observed CNV AND variant removes > 10% of protein 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 570 Gene_count : 1 |
fullAnnotation_mode : full |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 Closest_left : RAB22A Closest_right : APCDD1L |
.Location : . CytoBand : q13.32 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
STX16 (morbid/RE=EA_enhancer); GNAS (HI=3/mor[...]RE_gene : STX16 (morbid/RE=EA_enhancer); GNAS (HI=3/morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248; morbid:VAPB po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101 po_P_loss_percent : 0.02; 0.92 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58441202-58441287 Repeat_type_right : Charlie24 Gap_right : . GC_content_right : 0.415 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 570 |
splitAnnotation_mode : split |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ACMG : . ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029 NCBI_gene_ID : 9217 |
intron4-intron5Location : intron4-intron5 CytoBand : q13.32 Location2 : CDS Tx : NM_004738 Tx_version : 5 Tx_start : 58389228 Tx_end : 58451101 Exon_count : 6 Overlapped_tx_length : 570 Overlapped_CDS_length : 177 Overlapped_CDS_percent : 24 Frameshift : no Dist_nearest_SS : 50 Nearest_SS_type : 5' Intersect_start : 58440563 Intersect_end : 58441133 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.2 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-4 (VAPB), +0.20: Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND no established pathogenic snv/indel have been reported in the observed CNV AND variant removes > 10% of protein 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1307 Gene_count : 1 |
fullAnnotation_mode : full |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 Closest_left : RAB22A Closest_right : APCDD1L |
.Location : . CytoBand : q13.32 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248; morbid:VAPB po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101 po_P_loss_percent : 0.05; 2.11 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58440122-58440255 Repeat_type_left : MIR3 Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58441360-58441660 Repeat_type_right : AluSx3 Gap_right : . GC_content_right : 0.540 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1307 |
splitAnnotation_mode : split |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ACMG : . ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029 NCBI_gene_ID : 9217 |
intron4-intron5Location : intron4-intron5 CytoBand : q13.32 Location2 : CDS Tx : NM_004738 Tx_version : 5 Tx_start : 58389228 Tx_end : 58451101 Exon_count : 6 Overlapped_tx_length : 1307 Overlapped_CDS_length : 177 Overlapped_CDS_percent : 24 Frameshift : no Dist_nearest_SS : 415 Nearest_SS_type : 5' Intersect_start : 58440191 Intersect_end : 58441498 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.2 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-4 (VAPB), +0.20: Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND no established pathogenic snv/indel have been reported in the observed CNV AND variant removes > 10% of protein 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1908 Gene_count : 1 |
fullAnnotation_mode : full |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 Closest_left : RAB22A Closest_right : APCDD1L |
.Location : . CytoBand : q13.32 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248; morbid:VAPB po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101 po_P_loss_percent : 0.07; 3.08 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.310 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.335 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1908 |
splitAnnotation_mode : split |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ACMG : . ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029 NCBI_gene_ID : 9217 |
intron3-intron4Location : intron3-intron4 CytoBand : q13.32 Location2 : CDS Tx : NM_004738 Tx_version : 5 Tx_start : 58389228 Tx_end : 58451101 Exon_count : 6 Overlapped_tx_length : 1908 Overlapped_CDS_length : 81 Overlapped_CDS_percent : 11 Frameshift : no Dist_nearest_SS : 69 Nearest_SS_type : 3' Intersect_start : 58438875 Intersect_end : 58440783 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 688 Gene_count : 1 |
fullAnnotation_mode : full |
PTGISGene_name : PTGIS; LOEUF_bin : 6 GnomAD_pLI : 1.1970e-09 ExAC_pLI : 2.4233e-05 HI : . TS : . DDD_HI_percent : 65.68 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.636834400784232 ExAC_synZ : 0.275099413688182 ExAC_misZ : -0.751268886668729 Closest_left : KCNB1 Closest_right : LOC101927486 |
.Location : . CytoBand : q13.13 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbi[...]RE_gene : ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbid/RE=EA_enhancer); KCNB1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Hypertension, essential, 145500 (3) Multifactorial po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226; morbid:PTGIS po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110; 20:49524851-49568137 po_P_loss_percent : 0.01; 0.02; 0.03; 0.03; 1.59 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:49534478-49562489 dbVar po_B_loss_someG_coord : chr20:49534334-49562349 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49561923-49562166 Repeat_type_left : MIR Gap_left : . GC_content_left : 0.470 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.595 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 688 |
splitAnnotation_mode : split |
PTGISGene_name : PTGIS; LOEUF_bin : 6 GnomAD_pLI : 1.1970e-09 ExAC_pLI : 2.4233e-05 HI : . TS : . DDD_HI_percent : 65.68 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.636834400784232 ExAC_synZ : 0.275099413688182 ExAC_misZ : -0.751268886668729 GenCC_disease : essential hypertension, genetic GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 12372404; 31453292; 32236489; 9217767 NCBI_gene_ID : 5740 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : CDS Tx : NM_000961 Tx_version : 4 Tx_start : 49503873 Tx_end : 49568137 Exon_count : 10 Overlapped_tx_length : 688 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5332 Nearest_SS_type : 5' Intersect_start : 49562022 Intersect_end : 49562710 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.45 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-2 (IFT52, +0.45): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND other established pathogenic snv/indel have been reported in the observed CNV AND variant removes >= 10% of protein 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 15720 Gene_count : 1 |
fullAnnotation_mode : full |
IFT52Gene_name : IFT52; LOEUF_bin : 4 GnomAD_pLI : 2.0125e-06 ExAC_pLI : 1.6303e-04 HI : . TS : . DDD_HI_percent : 21.64 ExAC_cnvZ : -0.957267223159506 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.811247970413386 ExAC_synZ : -0.383710239968146 ExAC_misZ : 0.0585741056901821 Closest_left : SGK2 Closest_right : LOC124904906 |
.Location : . CytoBand : q13.12 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:IFT52; dbVar:nssv18788532 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43590937-43647299; 20:43594700-46010118 po_P_loss_percent : 0.10; 0.13; 0.13; 27.89; 0.65 |
1P_snvindel_nb : 1 P_snvindel_phen : Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:43606216-43606723 dbVar; chr20:43614510-43614567 dbVar po_B_loss_someG_coord : chr20:43600387-43602268 dbVar; chr20:43607189-43607238 HPRC:pbsv.DEL.3310 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43600300-43600574 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.565 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:43616225-43616526 Repeat_type_right : AluSz Gap_right : . GC_content_right : 0.395 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 15720 |
splitAnnotation_mode : split |
IFT52Gene_name : IFT52; LOEUF_bin : 4 GnomAD_pLI : 2.0125e-06 ExAC_pLI : 1.6303e-04 HI : . TS : . DDD_HI_percent : 21.64 ACMG : . ExAC_cnvZ : -0.957267223159506 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.811247970413386 ExAC_synZ : -0.383710239968146 ExAC_misZ : 0.0585741056901821 GenCC_disease : cranioectodermal dysplasia; short-rib thoracic dysplasia 16 with or without polydactyly GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 15182712; 15930098; 26880018; 26880018[PMID]_27466190[PMID]; 27466190; 30242358; 31042281 NCBI_gene_ID : 51098 |
intron3-intron7Location : intron3-intron7 CytoBand : q13.12 Location2 : CDS Tx : NM_001303458 Tx_version : 3 Tx_start : 43590936 Tx_end : 43647299 Exon_count : 14 Overlapped_tx_length : 15720 Overlapped_CDS_length : 405 Overlapped_CDS_percent : 30 Frameshift : no Dist_nearest_SS : 2211 Nearest_SS_type : 5' Intersect_start : 43600467 Intersect_end : 43616187 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (TOP1, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
TOP1Gene_name : TOP1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 1.64 ExAC_cnvZ : -1.41151623617141 ExAC_delZ : -2.41588703402856 ExAC_dupZ : -0.836816505234408 ExAC_synZ : 0.425865658646613 ExAC_misZ : 4.70150687382943 Closest_left : LOC105372621 Closest_right : PLCG1-AS1 |
.Location : . CytoBand : q12 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : DNA topoisomerase I, camptothecin-resistant (3) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:TOP1 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:41028822-41124487 po_P_loss_percent : 0.00; 0.00; 0.00; 0.52 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.380 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:41077092-41077219 Repeat_type_right : AluJr Gap_right : . GC_content_right : 0.460 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
TOP1Gene_name : TOP1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 1.64 ACMG : . ExAC_cnvZ : -1.41151623617141 ExAC_delZ : -2.41588703402856 ExAC_dupZ : -0.836816505234408 ExAC_synZ : 0.425865658646613 ExAC_misZ : 4.70150687382943 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7150 |
intron4-intron4Location : intron4-intron4 CytoBand : q12 Location2 : CDS Tx : NM_003286 Tx_version : 4 Tx_start : 41028821 Tx_end : 41124487 Exon_count : 21 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 314 Nearest_SS_type : 5' Intersect_start : 41076608 Intersect_end : 41077108 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 371 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536; morbid:NFS1 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837; 20:35668052-35699352 po_P_loss_percent : 0.00; 0.01; 0.01; 0.00; 0.08; 1.19 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.415 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35695760-35696055 Repeat_type_right : AluSc Gap_right : . GC_content_right : 0.485 |
|||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 371 |
splitAnnotation_mode : split |
NFS1Gene_name : NFS1; LOEUF_bin : 2 GnomAD_pLI : 5.5351e-02 ExAC_pLI : 8.3212e-01 HI : . TS : . DDD_HI_percent : 16.38 ACMG : . ExAC_cnvZ : -1.32339341252377 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21816840287075 ExAC_synZ : -0.588478731156264 ExAC_misZ : 1.53876878093165 GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206 NCBI_gene_ID : 9054 |
intron4-intron4Location : intron4-intron4 CytoBand : q11.22 Location2 : CDS Tx : NM_001198989 Tx_version : 2 Tx_start : 35668051 Tx_end : 35699352 Exon_count : 12 Overlapped_tx_length : 371 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 426 Nearest_SS_type : 5' Intersect_start : 35695579 Intersect_end : 35695950 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536; morbid:NFS1 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837; 20:35668052-35699352 po_P_loss_percent : 0.00; 0.02; 0.01; 0.00; 0.11; 1.60 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35693547-35693681 Repeat_type_left : AluJo Gap_left : . GC_content_left : 0.450 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35693682-35693982; 20:35693983-35694143; 20:35694144-35694443 Repeat_type_right : AluY; AluJo; AluSq2 Gap_right : . GC_content_right : 0.425 |
|||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
NFS1Gene_name : NFS1; LOEUF_bin : 2 GnomAD_pLI : 5.5351e-02 ExAC_pLI : 8.3212e-01 HI : . TS : . DDD_HI_percent : 16.38 ACMG : . ExAC_cnvZ : -1.32339341252377 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21816840287075 ExAC_synZ : -0.588478731156264 ExAC_misZ : 1.53876878093165 GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206 NCBI_gene_ID : 9054 |
intron4-intron4Location : intron4-intron4 CytoBand : q11.22 Location2 : CDS Tx : NM_001198989 Tx_version : 2 Tx_start : 35668051 Tx_end : 35699352 Exon_count : 12 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2301 Nearest_SS_type : 5' Intersect_start : 35693575 Intersect_end : 35694075 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 599 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536; morbid:NFS1 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837; 20:35668052-35699352 po_P_loss_percent : 0.00; 0.02; 0.02; 0.00; 0.13; 1.91 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 20:35684384-35685764 IMH; 20:35684621-35685320 IMH po_B_loss_someG_coord : 20:35684357-35685806 DDD:54726; 20:35684455-35685636 IMH |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35683848-35684123; 20:35684126-35684407 Repeat_type_left : AluSq2; AluY Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35684469-35684778; 20:35684783-35684896; 20:35684897-35685185 Repeat_type_right : AluSx1; AluJo; AluSx Gap_right : . GC_content_right : 0.455 |
|||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 599 |
splitAnnotation_mode : split |
NFS1Gene_name : NFS1; LOEUF_bin : 2 GnomAD_pLI : 5.5351e-02 ExAC_pLI : 8.3212e-01 HI : . TS : . DDD_HI_percent : 16.38 ACMG : . ExAC_cnvZ : -1.32339341252377 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21816840287075 ExAC_synZ : -0.588478731156264 ExAC_misZ : 1.53876878093165 GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206 NCBI_gene_ID : 9054 |
intron4-intron4Location : intron4-intron4 CytoBand : q11.22 Location2 : CDS Tx : NM_001198989 Tx_version : 2 Tx_start : 35668051 Tx_end : 35699352 Exon_count : 12 Overlapped_tx_length : 599 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2223 Nearest_SS_type : 3' Intersect_start : 35684204 Intersect_end : 35684803 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2C-2 (GDF5,+0.00): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and only the 5' UTR is involved 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2781 Gene_count : 1 |
fullAnnotation_mode : full |
GDF5Gene_name : GDF5; LOEUF_bin : 2 GnomAD_pLI : 6.7002e-01 ExAC_pLI : 9.2319e-01 HI : 3 TS : . DDD_HI_percent : 5.52 ExAC_cnvZ : -0.458511700692603 ExAC_delZ : -1.56972452437764 ExAC_dupZ : 0.53153914020515 ExAC_synZ : -0.11979862993338 ExAC_misZ : 2.39058853401816 Closest_left : GDF5-AS1 Closest_right : MIR1289-1 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : ?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250 (3) AR; Acromesomelic dysplasia 2A, 200700 (3) AR; Acromesomelic dysplasia 2B, 228900 (3) AR; Brachydactyly, type A1, C, 615072 (3) AR,AD; Brachydactyly, type A2, 112600 (3) AD; Brachydactyly, type C, 113100 (3) AD; Multiple synostoses syndrome 2, 610017 (3) AD; Symphalangism, proximal, 1B, 615298 (3) AD; Osteoarthritis-5, 612400 (3) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536; morbid:GDF5; HI3:GDF5 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837; 20:35433347-35454749; 20:35433348-35454749 po_P_loss_percent : 0.02; 0.09; 0.08; 0.02; 0.61; 12.99; 12.99 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35445688-35445999; 20:35446010-35446026; 20:35446027-35446331 Repeat_type_right : AluSp; MIRb; AluSq2 Gap_right : . GC_content_right : 0.380 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2781 |
splitAnnotation_mode : split |
GDF5Gene_name : GDF5; LOEUF_bin : 2 GnomAD_pLI : 6.7002e-01 ExAC_pLI : 9.2319e-01 HI : 3 TS : 0 DDD_HI_percent : 5.52 ACMG : . ExAC_cnvZ : -0.458511700692603 ExAC_delZ : -1.56972452437764 ExAC_dupZ : 0.53153914020515 ExAC_synZ : -0.11979862993338 ExAC_misZ : 2.39058853401816 GenCC_disease : Angel-shaped phalango-epiphyseal dysplasia; acromesomelic dysplasia 2A; acromesomelic dysplasia 2B; acromesomelic dysplasia 2C, Hunter-Thompson type; brachydactyly type A1; brachydactyly type A1C; brachydactyly type A2; brachydactyly type C; multiple synostoses syndrome; proximal symphalangism; proximal symphalangism 1A; symphalangism, proximal, 1B GenCC_moi : AD; AR; sD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 10080184; 11846737; 11857750; 12121354; 12124730; 12357473; 12357473[PMID]; 12567410; 12900894; 15173244[PMID]_22828428[PMID]; 16014698; 16014698[PMID]; 16127465; 16222676; 16222676[PMID]; 16532400; 16532400[PMID]; 16892395; 18283415; 18283415[PMID]_16892395[PMID]; 18629880; 19038017; 20683927[PMID]; 2703235; 27577507; 29371961; 390625; 8145850; 8589725; 8589725[PMID]; 9288091; 9288098; neant NCBI_gene_ID : 8200 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_001319138 Tx_version : 2 Tx_start : 35433346 Tx_end : 35454749 Exon_count : 4 Overlapped_tx_length : 2781 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1890 Nearest_SS_type : 3' Intersect_start : 35443277 Intersect_end : 35446058 |
601146; OMIM_ID : 601146; OMIM_phenotype : ?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250 (3) AR; Acromesomelic dysplasia 2A, 200700 (3) AR; Acromesomelic dysplasia 2B, 228900 (3) AR; Brachydactyly, type A1, C, 615072 (3) AR,AD; Brachydactyly, type A2, 112600 (3) AD; Brachydactyly, type C, 113100 (3) AD; Multiple synostoses syndrome 2, 610017 (3) AD; Symphalangism, proximal, 1B, 615298 (3) AD; (Osteoarthritis-5), 612400 (3); OMIM_inheritance : AD; AR; AR,AD OMIM_morbid : yes OMIM_morbid_candidate : yes |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2C-2 (AHCY,+0.00): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and only the 5' UTR is involved 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 13289 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:AHCY po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34280268-34311836 po_P_loss_percent : 0.09; 0.43; 0.39; 23.52 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:34304277-34304486 Repeat_type_left : MER2 Gap_left : . GC_content_left : 0.315 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:34317336-34317603; 20:34317604-34318014 Repeat_type_right : AluSg7; MLT1G3 Gap_right : . GC_content_right : 0.500 |
|||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 13289 |
splitAnnotation_mode : split |
AHCYGene_name : AHCY; LOEUF_bin : 3 GnomAD_pLI : 3.5922e-02 ExAC_pLI : 9.4407e-01 HI : 30 TS : 0 DDD_HI_percent : 18.88 ACMG : . ExAC_cnvZ : -2.18693174638708 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -1.71698637074454 ExAC_synZ : -0.185281858750464 ExAC_misZ : 2.04452899953228 GenCC_disease : hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 15024124; 16435181[PMID]; 19177456; 20852937; 22959829; 26527160 NCBI_gene_ID : 191 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : XM_011528659 Tx_version : 2 Tx_start : 34280267 Tx_end : 34311836 Exon_count : 10 Overlapped_tx_length : 7426 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7407 Nearest_SS_type : 5' Intersect_start : 34304410 Intersect_end : 34311836 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.45 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-2 (AHCY, +0.45): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND other established pathogenic snv/indel have been reported in the observed CNV AND variant removes >= 10% of protein 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4487 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:AHCY po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34280268-34311836 po_P_loss_percent : 0.03; 0.14; 0.13; 14.21 |
2P_snvindel_nb : 2 P_snvindel_phen : Hypermethioninemia_with_deficiency_of_S-adenosylhomocysteine_hydrolase; Inborn_genetic_diseases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:34292840-34293905 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:34292641-34292815 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.575 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:34297178-34297301; 20:34297302-34297595 Repeat_type_right : L2; AluSg Gap_right : . GC_content_right : 0.515 |
|||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4487 |
splitAnnotation_mode : split |
AHCYGene_name : AHCY; LOEUF_bin : 3 GnomAD_pLI : 3.5922e-02 ExAC_pLI : 9.4407e-01 HI : 30 TS : 0 DDD_HI_percent : 18.88 ACMG : . ExAC_cnvZ : -2.18693174638708 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -1.71698637074454 ExAC_synZ : -0.185281858750464 ExAC_misZ : 2.04452899953228 GenCC_disease : hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 15024124; 16435181[PMID]; 19177456; 20852937; 22959829; 26527160 NCBI_gene_ID : 191 |
intron1-intron3Location : intron1-intron3 CytoBand : q11.22 Location2 : CDS Tx : XM_047439962 Tx_version : 1 Tx_start : 34231980 Tx_end : 34303355 Exon_count : 11 Overlapped_tx_length : 4487 Overlapped_CDS_length : 267 Overlapped_CDS_percent : 20 Frameshift : no Dist_nearest_SS : 400 Nearest_SS_type : 3' Intersect_start : 34292907 Intersect_end : 34297394 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Hypermethioninemia_with_deficiency_of_S-adenosylhomocysteine_hydrolase; Inborn_genetic_diseases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 635 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:AHCY po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34280268-34311836 po_P_loss_percent : 0.00; 0.02; 0.02; 2.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:34287387-34287691 Repeat_type_left : AluSz Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.530 |
|||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 635 |
splitAnnotation_mode : split |
AHCYGene_name : AHCY; LOEUF_bin : 3 GnomAD_pLI : 3.5922e-02 ExAC_pLI : 9.4407e-01 HI : 30 TS : 0 DDD_HI_percent : 18.88 ACMG : . ExAC_cnvZ : -2.18693174638708 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -1.71698637074454 ExAC_synZ : -0.185281858750464 ExAC_misZ : 2.04452899953228 GenCC_disease : hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 15024124; 16435181[PMID]; 19177456; 20852937; 22959829; 26527160 NCBI_gene_ID : 191 |
intron8-intron8Location : intron8-intron8 CytoBand : q11.22 Location2 : CDS Tx : XM_047439962 Tx_version : 1 Tx_start : 34231980 Tx_end : 34303355 Exon_count : 11 Overlapped_tx_length : 635 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1666 Nearest_SS_type : 3' Intersect_start : 34287300 Intersect_end : 34287935 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
ASXL1Gene_name : ASXL1; LOEUF_bin : 4 GnomAD_pLI : 1.2511e-14 ExAC_pLI : 1.3737e-18 HI : 3 TS : . DDD_HI_percent : 20.78 ExAC_cnvZ : -0.0278344584251809 ExAC_delZ : -1.01940390925011 ExAC_dupZ : 0.677036012909873 ExAC_synZ : 0.207546365889455 ExAC_misZ : 0.0635347224825553 Closest_left : KIF3B Closest_right : NOL4L |
.Location : . CytoBand : q11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Bohring-Opitz syndrome, 605039 (3) AD; Myelodysplastic syndrome, somatic, 614286 (3) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; HI3:ASXL1; dbVar:nssv15140237 po_P_loss_coord : 20:32236739-47669019; 20:32358332-32439319; 20:32359269-32464974 po_P_loss_percent : 0.00; 0.62; 0.47 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32378846-32379066; 20:32379082-32379099 Repeat_type_left : AluSx1; (CA)n Gap_left : . GC_content_left : 0.470 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32379162-32379507; 20:32379544-32379847 Repeat_type_right : AluSz6; AluSx1 Gap_right : . GC_content_right : 0.540 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
ASXL1Gene_name : ASXL1; LOEUF_bin : 4 GnomAD_pLI : 1.2511e-14 ExAC_pLI : 1.3737e-18 HI : 3 TS : 0 DDD_HI_percent : 20.78 ACMG : . ExAC_cnvZ : -0.0278344584251809 ExAC_delZ : -1.01940390925011 ExAC_dupZ : 0.677036012909873 ExAC_synZ : 0.207546365889455 ExAC_misZ : 0.0635347224825553 GenCC_disease : Bohring-Opitz syndrome GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 21706002; 21706002[PMID]; 22419483; 2421814; 24218140; 25921057; 26364555; 27043953; 27237378; 28497657 NCBI_gene_ID : 171023 |
intron4-intron4Location : intron4-intron4 CytoBand : q11.21 Location2 : CDS Tx : NM_015338 Tx_version : 6 Tx_start : 32358330 Tx_end : 32439319 Exon_count : 13 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 9919 Nearest_SS_type : 5' Intersect_start : 32379042 Intersect_end : 32379542 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 1 |
fullAnnotation_mode : full |
ASXL1Gene_name : ASXL1; LOEUF_bin : 4 GnomAD_pLI : 1.2511e-14 ExAC_pLI : 1.3737e-18 HI : 3 TS : . DDD_HI_percent : 20.78 ExAC_cnvZ : -0.0278344584251809 ExAC_delZ : -1.01940390925011 ExAC_dupZ : 0.677036012909873 ExAC_synZ : 0.207546365889455 ExAC_misZ : 0.0635347224825553 Closest_left : KIF3B Closest_right : NOL4L |
.Location : . CytoBand : q11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Bohring-Opitz syndrome, 605039 (3) AD; Myelodysplastic syndrome, somatic, 614286 (3) po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; HI3:ASXL1; dbVar:nssv15140237 po_P_loss_coord : 20:32236739-47669019; 20:32358332-32439319; 20:32359269-32464974 po_P_loss_percent : 0.01; 1.23; 0.95 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32378320-32378453 Repeat_type_left : Tigger4b Gap_left : . GC_content_left : 0.370 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32379162-32379507; 20:32379544-32379847 Repeat_type_right : AluSz6; AluSx1 Gap_right : . GC_content_right : 0.540 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
ASXL1Gene_name : ASXL1; LOEUF_bin : 4 GnomAD_pLI : 1.2511e-14 ExAC_pLI : 1.3737e-18 HI : 3 TS : 0 DDD_HI_percent : 20.78 ACMG : . ExAC_cnvZ : -0.0278344584251809 ExAC_delZ : -1.01940390925011 ExAC_dupZ : 0.677036012909873 ExAC_synZ : 0.207546365889455 ExAC_misZ : 0.0635347224825553 GenCC_disease : Bohring-Opitz syndrome GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 21706002; 21706002[PMID]; 22419483; 2421814; 24218140; 25921057; 26364555; 27043953; 27237378; 28497657 NCBI_gene_ID : 171023 |
intron4-intron4Location : intron4-intron4 CytoBand : q11.21 Location2 : CDS Tx : NM_015338 Tx_version : 6 Tx_start : 32358330 Tx_end : 32439319 Exon_count : 13 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 9419 Nearest_SS_type : 5' Intersect_start : 32378542 Intersect_end : 32379542 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2C-2 (KIF3B,+0.00): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and only the 5' UTR is involved 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
KIF3BGene_name : KIF3B; LOEUF_bin : 2 GnomAD_pLI : 8.4213e-02 ExAC_pLI : 2.9915e-01 HI : . TS : . DDD_HI_percent : 22.85 ExAC_cnvZ : 0.160275694917033 ExAC_delZ : -0.861533762576394 ExAC_dupZ : 0.853647510937186 ExAC_synZ : -0.691470280996355 ExAC_misZ : 3.07202873442255 Closest_left : LOC124904885 Closest_right : ASXL1 |
.Location : . CytoBand : q11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Retinitis pigmentosa 89, 618955 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; morbid:KIF3B po_P_loss_coord : 20:32236739-47669019; 20:32301770-32335011 po_P_loss_percent : 0.00; 1.50 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32307279-32307617; 20:32307687-32307948 Repeat_type_left : L1ME4b; AluYc Gap_left : . GC_content_left : 0.380 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32307963-32308247; 20:32308248-32308396 Repeat_type_right : AluSx1; AluJr Gap_right : . GC_content_right : 0.520 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
KIF3BGene_name : KIF3B; LOEUF_bin : 2 GnomAD_pLI : 8.4213e-02 ExAC_pLI : 2.9915e-01 HI : . TS : . DDD_HI_percent : 22.85 ACMG : . ExAC_cnvZ : 0.160275694917033 ExAC_delZ : -0.861533762576394 ExAC_dupZ : 0.853647510937186 ExAC_synZ : -0.691470280996355 ExAC_misZ : 3.07202873442255 GenCC_disease : ciliopathy; retinitis pigmentosa 89 GenCC_moi : AD GenCC_classification : Limited; Moderate; Strong GenCC_pmid : 32386558 NCBI_gene_ID : 9371 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.21 Location2 : 5'UTR Tx : NM_004798 Tx_version : 4 Tx_start : 32277650 Tx_end : 32335011 Exon_count : 9 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1563 Nearest_SS_type : 3' Intersect_start : 32307649 Intersect_end : 32308149 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 126 Gene_count : 1 |
fullAnnotation_mode : full |
ABHD12Gene_name : ABHD12; LOEUF_bin : 4 GnomAD_pLI : 1.9476e-05 ExAC_pLI : 1.9830e-06 HI : . TS : . DDD_HI_percent : 52.8 ExAC_cnvZ : -0.680858476764257 ExAC_delZ : 0.189387474542123 ExAC_dupZ : -1.00068967075933 ExAC_synZ : 0.536489808349598 ExAC_misZ : 0.0636379461450042 Closest_left : PYGB Closest_right : LOC105372581 |
.Location : . CytoBand : p11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664; dbVar:nssv18787417; dbVar:nssv17172861; morbid:ABHD12; dbVar:nssv18787412 po_P_loss_coord : 20:18520274-25866684; 20:25314906-25320338; 20:25314926-25320318; 20:25318346-25390835; 20:25320180-25320338 po_P_loss_percent : 0.00; 2.32; 2.34; 0.17; 36.48 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:25319969-25320139 Repeat_type_left : LTR65 Gap_left : . GC_content_left : 0.575 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:25319969-25320139 Repeat_type_right : LTR65 Gap_right : . GC_content_right : 0.565 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 126 |
splitAnnotation_mode : split |
ABHD12Gene_name : ABHD12; LOEUF_bin : 4 GnomAD_pLI : 1.9476e-05 ExAC_pLI : 1.9830e-06 HI : 30 TS : 0 DDD_HI_percent : 52.8 ACMG : . ExAC_cnvZ : -0.680858476764257 ExAC_delZ : 0.189387474542123 ExAC_dupZ : -1.00068967075933 ExAC_synZ : 0.536489808349598 ExAC_misZ : 0.0636379461450042 GenCC_disease : PHARC syndrome GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 20797687; 20797687[PMID]; 22938382; 24027063; 24697911; 25743180; 26359340; 27890673; 28041643; 28448692; 29571850; 29625443 NCBI_gene_ID : 26090 |
exon4-intron4Location : exon4-intron4 CytoBand : p11.21 Location2 : CDS Tx : NM_015600 Tx_version : 5 Tx_start : 25294742 Tx_end : 25390835 Exon_count : 13 Overlapped_tx_length : 126 Overlapped_CDS_length : 39 Overlapped_CDS_percent : 3 Frameshift : no Dist_nearest_SS : 39 Nearest_SS_type : 5' Intersect_start : 25320111 Intersect_end : 25320237 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2D-1 (GZF1,+0.00): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and only the 3' untranslated region is involved. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 395 Gene_count : 1 |
fullAnnotation_mode : full |
GZF1Gene_name : GZF1; LOEUF_bin : 3 GnomAD_pLI : 1.7798e-03 ExAC_pLI : 7.8857e-03 HI : . TS : . DDD_HI_percent : 60.41 ExAC_cnvZ : 0.566998382689808 ExAC_delZ : 0.446211767722337 ExAC_dupZ : 0.385963476066028 ExAC_synZ : 0.487139764004285 ExAC_misZ : 2.68434418349457 Closest_left : LINC01431 Closest_right : NAPB |
.Location : . CytoBand : p11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Joint laxity, short stature, and myopia, 617662 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664; dbVar:nssv15131690; morbid:GZF1 po_P_loss_coord : 20:18520274-25866684; 20:21699708-24402817; 20:23364363-23373062 po_P_loss_percent : 0.01; 0.01; 4.54 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.355 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 395 |
splitAnnotation_mode : split |
GZF1Gene_name : GZF1; LOEUF_bin : 3 GnomAD_pLI : 1.7798e-03 ExAC_pLI : 7.8857e-03 HI : . TS : . DDD_HI_percent : 60.41 ACMG : . ExAC_cnvZ : 0.566998382689808 ExAC_delZ : 0.446211767722337 ExAC_dupZ : 0.385963476066028 ExAC_synZ : 0.487139764004285 ExAC_misZ : 2.68434418349457 GenCC_disease : Larsen syndrome; joint laxity, short stature, and myopia GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 28475863; 28475863[PMID]; 33009817 NCBI_gene_ID : 64412 |
exon6-exon6Location : exon6-exon6 CytoBand : p11.21 Location2 : 3'UTR Tx : XM_047440376 Tx_version : 1 Tx_start : 23361126 Tx_end : 23373062 Exon_count : 6 Overlapped_tx_length : 395 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 620 Nearest_SS_type : 3' Intersect_start : 23370756 Intersect_end : 23371151 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11321 Gene_count : 1 |
fullAnnotation_mode : full |
GZF1Gene_name : GZF1; LOEUF_bin : 3 GnomAD_pLI : 1.7798e-03 ExAC_pLI : 7.8857e-03 HI : . TS : . DDD_HI_percent : 60.41 ExAC_cnvZ : 0.566998382689808 ExAC_delZ : 0.446211767722337 ExAC_dupZ : 0.385963476066028 ExAC_synZ : 0.487139764004285 ExAC_misZ : 2.68434418349457 Closest_left : LINC01431 Closest_right : NAPB |
.Location : . CytoBand : p11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
CST3 (morbid/RE=EA_enhancer); RE_gene : CST3 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Joint laxity, short stature, and myopia, 617662 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664; dbVar:nssv15131690; morbid:GZF1 po_P_loss_coord : 20:18520274-25866684; 20:21699708-24402817; 20:23364363-23373062 po_P_loss_percent : 0.15; 0.42; 78.03 |
7P_snvindel_nb : 7 P_snvindel_phen : Joint_laxity,_short_stature,_and_myopia |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:23359722-23359875; 20:23359876-23360169 Repeat_type_left : AluSx1; AluSx Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.355 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11321 |
splitAnnotation_mode : split |
GZF1Gene_name : GZF1; LOEUF_bin : 3 GnomAD_pLI : 1.7798e-03 ExAC_pLI : 7.8857e-03 HI : . TS : . DDD_HI_percent : 60.41 ACMG : . ExAC_cnvZ : 0.566998382689808 ExAC_delZ : 0.446211767722337 ExAC_dupZ : 0.385963476066028 ExAC_synZ : 0.487139764004285 ExAC_misZ : 2.68434418349457 GenCC_disease : Larsen syndrome; joint laxity, short stature, and myopia GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 28475863; 28475863[PMID]; 33009817 NCBI_gene_ID : 64412 |
txStart-exon6Location : txStart-exon6 CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : XM_011529321 Tx_version : 4 Tx_start : 23361130 Tx_end : 23373062 Exon_count : 6 Overlapped_tx_length : 10021 Overlapped_CDS_length : 2136 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : 1061 Nearest_SS_type : 3' Intersect_start : 23361130 Intersect_end : 23371151 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
7P_snvindel_nb : 7 P_snvindel_phen : Joint_laxity,_short_stature,_and_myopia |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 18468 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p11.23 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.14; 0.51; 0.25; 0.64 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:20215882-20219488 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.455 |
|||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 18468 |
splitAnnotation_mode : split |
intron17-intron17Location : intron17-intron17 CytoBand : p11.23 Location2 : CDS Tx : NM_015585 Tx_version : 4 Tx_start : 20052531 Tx_end : 20360698 Exon_count : 27 Overlapped_tx_length : 18468 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1139 Nearest_SS_type : 3' Intersect_start : 20208641 Intersect_end : 20227109 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1784 Gene_count : 1 |
fullAnnotation_mode : full |
NAA20Gene_name : NAA20; LOEUF_bin : 5 GnomAD_pLI : 6.2021e-03 ExAC_pLI : 1.3606e-02 HI : . TS : . DDD_HI_percent : 25.01 ExAC_cnvZ : 0.738281486635094 ExAC_delZ : 0.884909054692732 ExAC_dupZ : 0.424906671458915 ExAC_synZ : 0.585755365868259 ExAC_misZ : 1.18784696932409 Closest_left : RIN2 Closest_right : CRNKL1 |
.Location : . CytoBand : p11.23 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Intellectual developmental disorder, AR 73, 619717 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241; morbid:NAA20 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759; 20:20017795-20033629 po_P_loss_percent : 0.01; 0.05; 0.02; 0.06; 11.27 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:20029337-20029633; 20:20029634-20029801; 20:20029802-20029877 Repeat_type_left : AluSz; L1ME4b; MER58C Gap_left : . GC_content_left : 0.290 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20031390-20032061 Repeat_type_right : L1ME4b Gap_right : . GC_content_right : 0.320 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1784 |
splitAnnotation_mode : split |
NAA20Gene_name : NAA20; LOEUF_bin : 5 GnomAD_pLI : 6.2021e-03 ExAC_pLI : 1.3606e-02 HI : . TS : . DDD_HI_percent : 25.01 ACMG : . ExAC_cnvZ : 0.738281486635094 ExAC_delZ : 0.884909054692732 ExAC_dupZ : 0.424906671458915 ExAC_synZ : 0.585755365868259 ExAC_misZ : 1.18784696932409 GenCC_disease : intellectual developmental disorder, autosomal recessive 73 GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 34230638 NCBI_gene_ID : 51126 |
intron4-intron4Location : intron4-intron4 CytoBand : p11.23 Location2 : CDS Tx : NM_181528 Tx_version : 3 Tx_start : 20017289 Tx_end : 20033629 Exon_count : 5 Overlapped_tx_length : 1784 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1585 Nearest_SS_type : 3' Intersect_start : 20029732 Intersect_end : 20031516 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
NAA20Gene_name : NAA20; LOEUF_bin : 5 GnomAD_pLI : 6.2021e-03 ExAC_pLI : 1.3606e-02 HI : . TS : . DDD_HI_percent : 25.01 ExAC_cnvZ : 0.738281486635094 ExAC_delZ : 0.884909054692732 ExAC_dupZ : 0.424906671458915 ExAC_synZ : 0.585755365868259 ExAC_misZ : 1.18784696932409 Closest_left : RIN2 Closest_right : CRNKL1 |
.Location : . CytoBand : p11.23 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Intellectual developmental disorder, AR 73, 619717 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241; morbid:NAA20 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759; 20:20017795-20033629 po_P_loss_percent : 0.00; 0.01; 0.01; 0.02; 3.16 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:20029337-20029633; 20:20029634-20029801; 20:20029802-20029877 Repeat_type_left : AluSz; L1ME4b; MER58C Gap_left : . GC_content_left : 0.290 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20029982-20031313 Repeat_type_right : L1ME4b Gap_right : . GC_content_right : 0.350 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
NAA20Gene_name : NAA20; LOEUF_bin : 5 GnomAD_pLI : 6.2021e-03 ExAC_pLI : 1.3606e-02 HI : . TS : . DDD_HI_percent : 25.01 ACMG : . ExAC_cnvZ : 0.738281486635094 ExAC_delZ : 0.884909054692732 ExAC_dupZ : 0.424906671458915 ExAC_synZ : 0.585755365868259 ExAC_misZ : 1.18784696932409 GenCC_disease : intellectual developmental disorder, autosomal recessive 73 GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 34230638 NCBI_gene_ID : 51126 |
intron4-intron4Location : intron4-intron4 CytoBand : p11.23 Location2 : CDS Tx : NM_181528 Tx_version : 3 Tx_start : 20017289 Tx_end : 20033629 Exon_count : 5 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2813 Nearest_SS_type : 5' Intersect_start : 20029732 Intersect_end : 20030232 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2457 Gene_count : 1 |
fullAnnotation_mode : full |
NAA20Gene_name : NAA20; LOEUF_bin : 5 GnomAD_pLI : 6.2021e-03 ExAC_pLI : 1.3606e-02 HI : . TS : . DDD_HI_percent : 25.01 ExAC_cnvZ : 0.738281486635094 ExAC_delZ : 0.884909054692732 ExAC_dupZ : 0.424906671458915 ExAC_synZ : 0.585755365868259 ExAC_misZ : 1.18784696932409 Closest_left : RIN2 Closest_right : CRNKL1 |
.Location : . CytoBand : p11.23 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Intellectual developmental disorder, AR 73, 619717 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241; morbid:NAA20 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759; 20:20017795-20033629 po_P_loss_percent : 0.02; 0.07; 0.03; 0.08; 15.52 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:20020023-20020126 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.345 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.315 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2457 |
splitAnnotation_mode : split |
NAA20Gene_name : NAA20; LOEUF_bin : 5 GnomAD_pLI : 6.2021e-03 ExAC_pLI : 1.3606e-02 HI : . TS : . DDD_HI_percent : 25.01 ACMG : . ExAC_cnvZ : 0.738281486635094 ExAC_delZ : 0.884909054692732 ExAC_dupZ : 0.424906671458915 ExAC_synZ : 0.585755365868259 ExAC_misZ : 1.18784696932409 GenCC_disease : intellectual developmental disorder, autosomal recessive 73 GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 34230638 NCBI_gene_ID : 51126 |
intron1-exon2Location : intron1-exon2 CytoBand : p11.23 Location2 : CDS Tx : NM_181528 Tx_version : 3 Tx_start : 20017289 Tx_end : 20033629 Exon_count : 5 Overlapped_tx_length : 2457 Overlapped_CDS_length : 3 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3 Nearest_SS_type : 3' Intersect_start : 20020001 Intersect_end : 20022458 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5083 Gene_count : 1 |
fullAnnotation_mode : full |
RIN2Gene_name : RIN2; LOEUF_bin : 2 GnomAD_pLI : 8.1408e-04 ExAC_pLI : 8.2956e-03 HI : . TS : . DDD_HI_percent : 39.64 ExAC_cnvZ : 0.482178397152832 ExAC_delZ : 0.323657252866233 ExAC_dupZ : 0.352436784153701 ExAC_synZ : 0.791696177000152 ExAC_misZ : 0.256852541235514 Closest_left : SLC24A3-AS1 Closest_right : NAA20 |
.Location : . CytoBand : p11.23 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241; morbid:RIN2 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759; 20:19935110-20002456 po_P_loss_percent : 0.04; 0.14; 0.07; 0.18; 6.22 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:19997979-19998281; 20:19998316-19998629 Repeat_type_left : AluSz; AluJr Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20003430-20003556 Repeat_type_right : AluJr Gap_right : . GC_content_right : 0.440 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 5083 |
splitAnnotation_mode : split |
RIN2Gene_name : RIN2; LOEUF_bin : 2 GnomAD_pLI : 8.1408e-04 ExAC_pLI : 8.2956e-03 HI : 30 TS : . DDD_HI_percent : 39.64 ACMG : . ExAC_cnvZ : 0.482178397152832 ExAC_delZ : 0.323657252866233 ExAC_dupZ : 0.352436784153701 ExAC_synZ : 0.791696177000152 ExAC_misZ : 0.256852541235514 GenCC_disease : RIN2 syndrome GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 19631308; 19631308[PMID]_24449201[PMID]; 20424861; 20954239; 23963297; 24449201; 27277385 NCBI_gene_ID : 54453 |
intron14-txEndLocation : intron14-txEnd CytoBand : p11.23 Location2 : CDS-3'UTR Tx : XM_017027887 Tx_version : 2 Tx_start : 19757598 Tx_end : 20002456 Exon_count : 15 Overlapped_tx_length : 4191 Overlapped_CDS_length : 324 Overlapped_CDS_percent : 11 Frameshift : no Dist_nearest_SS : 1423 Nearest_SS_type : 5' Intersect_start : 19998265 Intersect_end : 20002456 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.45 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-2 (SEC23B, +0.45): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND other established pathogenic snv/indel have been reported in the observed CNV AND variant removes >= 10% of protein 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2937 Gene_count : 1 |
fullAnnotation_mode : full |
SEC23BGene_name : SEC23B; LOEUF_bin : 5 GnomAD_pLI : 6.0973e-20 ExAC_pLI : 6.8593e-14 HI : . TS : . DDD_HI_percent : 45.77 ExAC_cnvZ : -0.370110017491931 ExAC_delZ : 0.33173752575717 ExAC_dupZ : -0.728551144712417 ExAC_synZ : -0.128997102453763 ExAC_misZ : 0.117728934206789 Closest_left : RBBP9 Closest_right : SMIM26 |
.Location : . CytoBand : p11.23 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
BFSP1 (morbid/RE=EA_enhancer); OVOL2 (morbid/[...]RE_gene : BFSP1 (morbid/RE=EA_enhancer); OVOL2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : ?Cowden syndrome 7, 616858 (3) AD; Dyserythropoietic anemia, congenital, type II, 224100 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; morbid:SEC23B; dbVar:nssv15161664 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18507940-18561415; 20:18520274-25866684 po_P_loss_percent : 0.02; 0.08; 5.49; 0.04 |
10P_snvindel_nb : 10 P_snvindel_phen : Congenital_dyserythropoietic_anemia,_type_II; Cowden_syndrome_7 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:18526841-18526948 dbVar po_B_loss_someG_coord : chr20:18523418-18524234 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18523703-18524002; 20:18524003-18524221 Repeat_type_left : AluJo; L2a Gap_left : . GC_content_left : 0.480 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18526798-18526934; 20:18526935-18527244 Repeat_type_right : AluSz; AluSz6 Gap_right : . GC_content_right : 0.440 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2937 |
splitAnnotation_mode : split |
SEC23BGene_name : SEC23B; LOEUF_bin : 5 GnomAD_pLI : 6.0973e-20 ExAC_pLI : 6.8593e-14 HI : 30 TS : 0 DDD_HI_percent : 45.77 ACMG : . ExAC_cnvZ : -0.370110017491931 ExAC_delZ : 0.33173752575717 ExAC_dupZ : -0.728551144712417 ExAC_synZ : -0.128997102453763 ExAC_misZ : 0.117728934206789 GenCC_disease : Cowden disease; Cowden syndrome 7; congenital dyserythropoietic anemia; congenital dyserythropoietic anemia type 2 GenCC_moi : AD; AR GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 19561605; 19621418; 20015893; 25044164; 26522472; 26522472[PMID]; NULL NCBI_gene_ID : 10483 |
intron4-intron8Location : intron4-intron8 CytoBand : p11.23 Location2 : CDS Tx : NM_032986 Tx_version : 5 Tx_start : 18507547 Tx_end : 18561415 Exon_count : 20 Overlapped_tx_length : 2937 Overlapped_CDS_length : 627 Overlapped_CDS_percent : 27 Frameshift : no Dist_nearest_SS : 317 Nearest_SS_type : 5' Intersect_start : 18523911 Intersect_end : 18526848 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
10P_snvindel_nb : 10 P_snvindel_phen : Congenital_dyserythropoietic_anemia,_type_II; Cowden_syndrome_7 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 13933 Gene_count : 1 |
fullAnnotation_mode : full |
PLCB4Gene_name : PLCB4; LOEUF_bin : 2 GnomAD_pLI : 3.0437e-06 ExAC_pLI : 2.7226e-01 HI : . TS : . DDD_HI_percent : 7.39 ExAC_cnvZ : 1.09866851327355 ExAC_delZ : 0.994897118266721 ExAC_dupZ : 0.941346197815781 ExAC_synZ : 0.89464512518817 ExAC_misZ : 3.13466058173666 Closest_left : LOC105372522 Closest_right : LAMP5-AS1 |
.Location : . CytoBand : p12.2 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Auriculocondylar syndrome 2A, 614669 (3) AD; Auriculocondylar syndrome 2B, 620458 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567; morbid:PLCB4 po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012; 20:9403006-9480808 po_P_loss_percent : 0.10; 0.16; 0.17; 0.21; 0.40; 0.10; 17.91 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.310 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:9438085-9438395 Repeat_type_right : AluYk4 Gap_right : . GC_content_right : 0.510 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 13933 |
splitAnnotation_mode : split |
PLCB4Gene_name : PLCB4; LOEUF_bin : 2 GnomAD_pLI : 3.0437e-06 ExAC_pLI : 2.7226e-01 HI : . TS : . DDD_HI_percent : 7.39 ACMG : . ExAC_cnvZ : 1.09866851327355 ExAC_delZ : 0.994897118266721 ExAC_dupZ : 0.941346197815781 ExAC_synZ : 0.89464512518817 ExAC_misZ : 3.13466058173666 GenCC_disease : auriculocondylar syndrome; auriculocondylar syndrome 1; auriculocondylar syndrome 2 GenCC_moi : AD; AR; sD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 22560091; 22560091[PMID]; 23315542; 23913798; 27007857 NCBI_gene_ID : 5332 |
intron27-intron29Location : intron27-intron29 CytoBand : p12.2 Location2 : CDS Tx : NM_001377134 Tx_version : 2 Tx_start : 9068677 Tx_end : 9480808 Exon_count : 39 Overlapped_tx_length : 13933 Overlapped_CDS_length : 240 Overlapped_CDS_percent : 6 Frameshift : no Dist_nearest_SS : 424 Nearest_SS_type : 5' Intersect_start : 9424376 Intersect_end : 9438309 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 9340 Gene_count : 1 |
fullAnnotation_mode : full |
PLCB4Gene_name : PLCB4; LOEUF_bin : 2 GnomAD_pLI : 3.0437e-06 ExAC_pLI : 2.7226e-01 HI : . TS : . DDD_HI_percent : 7.39 ExAC_cnvZ : 1.09866851327355 ExAC_delZ : 0.994897118266721 ExAC_dupZ : 0.941346197815781 ExAC_synZ : 0.89464512518817 ExAC_misZ : 3.13466058173666 Closest_left : LOC105372522 Closest_right : LAMP5-AS1 |
.Location : . CytoBand : p12.2 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012 po_P_loss_percent : 0.07; 0.11; 0.11; 0.14; 0.27; 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.350 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:9360974-9361669 Repeat_type_right : L1MB3 Gap_right : . GC_content_right : 0.360 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 9340 |
splitAnnotation_mode : split |
PLCB4Gene_name : PLCB4; LOEUF_bin : 2 GnomAD_pLI : 3.0437e-06 ExAC_pLI : 2.7226e-01 HI : . TS : . DDD_HI_percent : 7.39 ACMG : . ExAC_cnvZ : 1.09866851327355 ExAC_delZ : 0.994897118266721 ExAC_dupZ : 0.941346197815781 ExAC_synZ : 0.89464512518817 ExAC_misZ : 3.13466058173666 GenCC_disease : auriculocondylar syndrome; auriculocondylar syndrome 1; auriculocondylar syndrome 2 GenCC_moi : AD; AR; sD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 22560091; 22560091[PMID]; 23315542; 23913798; 27007857 NCBI_gene_ID : 5332 |
intron7-intron7Location : intron7-intron7 CytoBand : p12.2 Location2 : CDS Tx : NM_001377134 Tx_version : 2 Tx_start : 9068677 Tx_end : 9480808 Exon_count : 39 Overlapped_tx_length : 9340 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1946 Nearest_SS_type : 3' Intersect_start : 9351609 Intersect_end : 9360949 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.45 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2E-2 (PLCB4, +0.45): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND other established pathogenic snv/indel have been reported in the observed CNV AND variant removes >= 10% of protein 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 72007 Gene_count : 1 |
fullAnnotation_mode : full |
PLCB4Gene_name : PLCB4; LOEUF_bin : 2 GnomAD_pLI : 3.0437e-06 ExAC_pLI : 2.7226e-01 HI : . TS : . DDD_HI_percent : 7.39 ExAC_cnvZ : 1.09866851327355 ExAC_delZ : 0.994897118266721 ExAC_dupZ : 0.941346197815781 ExAC_synZ : 0.89464512518817 ExAC_misZ : 3.13466058173666 Closest_left : LOC105372522 Closest_right : LAMP5-AS1 |
.Location : . CytoBand : p12.2 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012 po_P_loss_percent : 0.51; 0.83; 0.87; 1.06; 2.08; 0.53 |
1P_snvindel_nb : 1 P_snvindel_phen : Auriculocondylar_syndrome_1 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:9325243-9325695 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:9388883-9389748 Repeat_type_right : L4_A_Mam Gap_right : . GC_content_right : 0.510 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 72007 |
splitAnnotation_mode : split |
PLCB4Gene_name : PLCB4; LOEUF_bin : 2 GnomAD_pLI : 3.0437e-06 ExAC_pLI : 2.7226e-01 HI : . TS : . DDD_HI_percent : 7.39 ACMG : . ExAC_cnvZ : 1.09866851327355 ExAC_delZ : 0.994897118266721 ExAC_dupZ : 0.941346197815781 ExAC_synZ : 0.89464512518817 ExAC_misZ : 3.13466058173666 GenCC_disease : auriculocondylar syndrome; auriculocondylar syndrome 1; auriculocondylar syndrome 2 GenCC_moi : AD; AR; sD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 22560091; 22560091[PMID]; 23315542; 23913798; 27007857 NCBI_gene_ID : 5332 |
intron4-intron15Location : intron4-intron15 CytoBand : p12.2 Location2 : CDS Tx : NM_001377134 Tx_version : 2 Tx_start : 9068677 Tx_end : 9480808 Exon_count : 39 Overlapped_tx_length : 72007 Overlapped_CDS_length : 1074 Overlapped_CDS_percent : 29 Frameshift : no Dist_nearest_SS : 350 Nearest_SS_type : 3' Intersect_start : 9317521 Intersect_end : 9389528 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Auriculocondylar_syndrome_1 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 1 |
fullAnnotation_mode : full |
CRLS1Gene_name : CRLS1; LOEUF_bin : 5 GnomAD_pLI : 3.1076e-03 ExAC_pLI : 3.3508e-02 HI : . TS : . DDD_HI_percent : 35.79 ExAC_cnvZ : 0.766326073232298 ExAC_delZ : 0.634248000685519 ExAC_dupZ : 0.544642995721259 ExAC_synZ : 0.488280520880372 ExAC_misZ : -0.0103810121795492 Closest_left : MCM8-AS1 Closest_right : LRRN4 |
.Location : . CytoBand : p12.3 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
FERMT1 (morbid/RE=EA_enhancer); RE_gene : FERMT1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Combined oxidative phosphorylation deficiency 57, 620167 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; morbid:CRLS1 po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:6007249-6040053 po_P_loss_percent : 0.02; 0.01; 0.01; 0.04; 0.01; 3.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:6033364-6040117 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:6032366-6032497 Repeat_type_left : FLAM_C Gap_left : . GC_content_left : 0.430 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:6033435-6033447 Repeat_type_right : (ATTTT)n Gap_right : . GC_content_right : 0.410 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
CRLS1Gene_name : CRLS1; LOEUF_bin : 5 GnomAD_pLI : 3.1076e-03 ExAC_pLI : 3.3508e-02 HI : . TS : . DDD_HI_percent : 35.79 ACMG : . ExAC_cnvZ : 0.766326073232298 ExAC_delZ : 0.634248000685519 ExAC_dupZ : 0.544642995721259 ExAC_synZ : 0.488280520880372 ExAC_misZ : -0.0103810121795492 GenCC_disease : combined oxidative phosphorylation deficiency 57 GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 35147173 NCBI_gene_ID : 54675 |
intron5-intron5Location : intron5-intron5 CytoBand : p12.3 Location2 : CDS Tx : NM_001323562 Tx_version : 2 Tx_start : 6005937 Tx_end : 6040053 Exon_count : 7 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 459 Nearest_SS_type : 5' Intersect_start : 6032539 Intersect_end : 6033539 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 1 |
fullAnnotation_mode : full |
NTSR1Gene_name : NTSR1; LOEUF_bin : 7 GnomAD_pLI : 1.9280e-08 ExAC_pLI : 9.7293e-08 HI : . TS : . DDD_HI_percent : 13.25 ExAC_cnvZ : -0.94782725861227 ExAC_delZ : -0.0414623751871609 ExAC_dupZ : -1.23487206842764 ExAC_synZ : 2.18457520996231 ExAC_misZ : 1.01993292008133 Closest_left : SLCO4A1-AS1 Closest_right : LINC00659 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506; dbVar:nssv18841909; dbVar:nssv17955984; dbVar:nssv15138620; dbVar:nssv15149838 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202; 20:62632018-63794804; 20:62642503-64276226; 20:62663308-64284202; 20:62706178-64273148 po_P_loss_percent : 0.05; 0.07; 0.06; 0.06; 0.06; 0.06; 0.06; 0.06; 0.09; 0.06; 0.06; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62729526-62729603; 20:62729627-62729922 Repeat_type_left : MER5B; AluSx1 Gap_left : . GC_content_left : 0.495 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62729935-62731071 Repeat_type_right : L1MC2 Gap_right : . GC_content_right : 0.455 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
NTSR1Gene_name : NTSR1; LOEUF_bin : 7 GnomAD_pLI : 1.9280e-08 ExAC_pLI : 9.7293e-08 HI : . TS : . DDD_HI_percent : 13.25 ACMG : . ExAC_cnvZ : -0.94782725861227 ExAC_delZ : -0.0414623751871609 ExAC_dupZ : -1.23487206842764 ExAC_synZ : 2.18457520996231 ExAC_misZ : 1.01993292008133 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4923 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.33 Location2 : CDS Tx : NM_002531 Tx_version : 3 Tx_start : 62708835 Tx_end : 62762771 Exon_count : 4 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 19648 Nearest_SS_type : 5' Intersect_start : 62729569 Intersect_end : 62730569 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 24912 Gene_count : 1 |
fullAnnotation_mode : full |
SLCO4A1Gene_name : SLCO4A1; LOEUF_bin : 5 GnomAD_pLI : 1.0328e-10 ExAC_pLI : 5.3410e-07 HI : . TS : . DDD_HI_percent : 75.43 ExAC_cnvZ : -0.245712066442584 ExAC_delZ : 0.18219566472661 ExAC_dupZ : -0.440849988370928 ExAC_synZ : -0.670112009533613 ExAC_misZ : 0.560511823796261 Closest_left : SLCO4A1-AS1 Closest_right : NTSR1 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
RTEL1 (morbid/RE=EA_enhancer); OSBPL2 (morbid[...]RE_gene : RTEL1 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506; dbVar:nssv18841909; dbVar:nssv17955984; dbVar:nssv15138620 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202; 20:62632018-63794804; 20:62642503-64276226; 20:62663308-64284202 po_P_loss_percent : 1.34; 1.80; 1.37; 1.57; 1.47; 1.44; 1.45; 1.46; 2.14; 1.52; 1.54 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:62672535-62673787 gnomAD-SV_v3_DEL_chr20_eacecaaa; chr20:62672885-62673792 dbVar; 20:62672886-62673792 esv3646294; chr20:62672898-62673787 HPRC:pbsv.DEL.5244; 20:62672899-62673787 DDD:55240; 20:62672899-62673787 esv2658311; chr20:62689246-62689278 HPRC:pbsv.DEL.5255 po_B_loss_someG_coord : chr20:62672038-62674408 dbVar; chr20:62672782-62673346 gnomAD-SV_v3_DEL_chr20_4cf6766f; 20:62672886-62673792 1000g; 20:62672898-62673787 CMRI:6_pbsv.DEL.1462_duplicate5; chr20:62672898-62673787 dbVar; 20:62672899-62673787 IMH; chr20:62673252-62673276 HPRC:pbsv.DEL.5245 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62669919-62670104 Repeat_type_left : Tigger7 Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62693920-62694856; 20:62694861-62694942 Repeat_type_right : MER21C; MLT1E2 Gap_right : . GC_content_right : 0.435 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 24912 |
splitAnnotation_mode : split |
SLCO4A1Gene_name : SLCO4A1; LOEUF_bin : 5 GnomAD_pLI : 1.0328e-10 ExAC_pLI : 5.3410e-07 HI : . TS : . DDD_HI_percent : 75.43 ACMG : . ExAC_cnvZ : -0.245712066442584 ExAC_delZ : 0.18219566472661 ExAC_dupZ : -0.440849988370928 ExAC_synZ : -0.670112009533613 ExAC_misZ : 0.560511823796261 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 28231 |
intron11-txEndLocation : intron11-txEnd CytoBand : q13.33 Location2 : CDS-3'UTR Tx : XM_011528792 Tx_version : 4 Tx_start : 62642502 Tx_end : 62677339 Exon_count : 12 Overlapped_tx_length : 7452 Overlapped_CDS_length : 282 Overlapped_CDS_percent : 12 Frameshift : no Dist_nearest_SS : 809 Nearest_SS_type : 5' Intersect_start : 62669887 Intersect_end : 62677339 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
SLCO4A1Gene_name : SLCO4A1; LOEUF_bin : 5 GnomAD_pLI : 1.0328e-10 ExAC_pLI : 5.3410e-07 HI : . TS : . DDD_HI_percent : 75.43 ExAC_cnvZ : -0.245712066442584 ExAC_delZ : 0.18219566472661 ExAC_dupZ : -0.440849988370928 ExAC_synZ : -0.670112009533613 ExAC_misZ : 0.560511823796261 Closest_left : SLCO4A1-AS1 Closest_right : NTSR1 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506; dbVar:nssv18841909; dbVar:nssv17955984; dbVar:nssv15138620 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202; 20:62632018-63794804; 20:62642503-64276226; 20:62663308-64284202 po_P_loss_percent : 0.03; 0.04; 0.03; 0.03; 0.03; 0.03; 0.03; 0.03; 0.04; 0.03; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62669919-62670104 Repeat_type_left : Tigger7 Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62670320-62670542 Repeat_type_right : Tigger7 Gap_right : . GC_content_right : 0.510 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
SLCO4A1Gene_name : SLCO4A1; LOEUF_bin : 5 GnomAD_pLI : 1.0328e-10 ExAC_pLI : 5.3410e-07 HI : . TS : . DDD_HI_percent : 75.43 ACMG : . ExAC_cnvZ : -0.245712066442584 ExAC_delZ : 0.18219566472661 ExAC_dupZ : -0.440849988370928 ExAC_synZ : -0.670112009533613 ExAC_misZ : 0.560511823796261 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 28231 |
intron11-exon12Location : intron11-exon12 CytoBand : q13.33 Location2 : CDS-3'UTR Tx : XM_017027827 Tx_version : 3 Tx_start : 62642502 Tx_end : 62672293 Exon_count : 12 Overlapped_tx_length : 500 Overlapped_CDS_length : 78 Overlapped_CDS_percent : 3 Frameshift : no Dist_nearest_SS : 63 Nearest_SS_type : 3' Intersect_start : 62669887 Intersect_end : 62670387 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11312 Gene_count : 1 |
fullAnnotation_mode : full |
SLCO4A1Gene_name : SLCO4A1; LOEUF_bin : 5 GnomAD_pLI : 1.0328e-10 ExAC_pLI : 5.3410e-07 HI : . TS : . DDD_HI_percent : 75.43 ExAC_cnvZ : -0.245712066442584 ExAC_delZ : 0.18219566472661 ExAC_dupZ : -0.440849988370928 ExAC_synZ : -0.670112009533613 ExAC_misZ : 0.560511823796261 Closest_left : SLCO4A1-AS1 Closest_right : NTSR1 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); RTEL1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506; dbVar:nssv18841909; dbVar:nssv17955984; dbVar:nssv15138620 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202; 20:62632018-63794804; 20:62642503-64276226; 20:62663308-64284202 po_P_loss_percent : 0.61; 0.82; 0.62; 0.71; 0.67; 0.65; 0.66; 0.66; 0.97; 0.69; 0.70 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:62672535-62673787 gnomAD-SV_v3_DEL_chr20_eacecaaa; chr20:62672885-62673792 dbVar; 20:62672886-62673792 esv3646294; chr20:62672898-62673787 HPRC:pbsv.DEL.5244; 20:62672899-62673787 DDD:55240; 20:62672899-62673787 esv2658311; po_B_loss_someG_coord : chr20:62672038-62674408 dbVar; chr20:62672782-62673346 gnomAD-SV_v3_DEL_chr20_4cf6766f; 20:62672886-62673792 1000g; 20:62672898-62673787 CMRI:6_pbsv.DEL.1462_duplicate5; chr20:62672898-62673787 dbVar; 20:62672899-62673787 IMH; chr20:62673252-62673276 HPRC:pbsv.DEL.5245 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.465 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62680141-62680908; 20:62680909-62681185 Repeat_type_right : L1MD; AluJb Gap_right : . GC_content_right : 0.470 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11312 |
splitAnnotation_mode : split |
SLCO4A1Gene_name : SLCO4A1; LOEUF_bin : 5 GnomAD_pLI : 1.0328e-10 ExAC_pLI : 5.3410e-07 HI : . TS : . DDD_HI_percent : 75.43 ACMG : . ExAC_cnvZ : -0.245712066442584 ExAC_delZ : 0.18219566472661 ExAC_dupZ : -0.440849988370928 ExAC_synZ : -0.670112009533613 ExAC_misZ : 0.560511823796261 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 28231 |
intron11-txEndLocation : intron11-txEnd CytoBand : q13.33 Location2 : CDS-3'UTR Tx : XM_011528792 Tx_version : 4 Tx_start : 62642502 Tx_end : 62677339 Exon_count : 12 Overlapped_tx_length : 7738 Overlapped_CDS_length : 282 Overlapped_CDS_percent : 12 Frameshift : no Dist_nearest_SS : 523 Nearest_SS_type : 5' Intersect_start : 62669601 Intersect_end : 62677339 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4015 Gene_count : 1 |
fullAnnotation_mode : full |
LOC124904947Gene_name : LOC124904947; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372711 Closest_right : LOC105376995 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639 po_P_loss_percent : 0.22; 0.29; 0.22; 0.25 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.680 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.485 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4015 |
splitAnnotation_mode : split |
LOC124904947Gene_name : LOC124904947; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : XR_007067707 Tx_version : 1 Tx_start : 62494824 Tx_end : 62496014 Exon_count : 2 Overlapped_tx_length : 1190 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62494824 Intersect_end : 62496014 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4015 Gene_count : 1 |
fullAnnotation_mode : full |
LOC124904947Gene_name : LOC124904947; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372711 Closest_right : LOC105376995 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639 po_P_loss_percent : 0.22; 0.29; 0.22; 0.25 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.680 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.485 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4015 |
splitAnnotation_mode : split |
LOC124904947Gene_name : LOC124904947; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : XR_007067707 Tx_version : 1 Tx_start : 62494824 Tx_end : 62496014 Exon_count : 2 Overlapped_tx_length : 1190 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62494824 Intersect_end : 62496014 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6277 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105372708Gene_name : LOC105372708; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LAMA5-AS1 Closest_right : RPS21-DT |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:62384062-62385369 dbVar po_B_loss_someG_coord : chr20:62383727-62383885 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.665 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62384306-62384369; 20:62384370-62384674 Repeat_type_right : L1MD; AluJb Gap_right : . GC_content_right : 0.485 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6277 |
splitAnnotation_mode : split |
LOC105372708Gene_name : LOC105372708; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-intron1Location : txStart-intron1 CytoBand : q13.33 Location2 : UTR Tx : XR_936966 Tx_version : 4 Tx_start : 62373814 Tx_end : 62378827 Exon_count : 2 Overlapped_tx_length : 640 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 92 Nearest_SS_type : 5' Intersect_start : 62378187 Intersect_end : 62378827 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11019 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105372708Gene_name : LOC105372708; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LAMA5-AS1 Closest_right : RPS21-DT |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:62373486-62373556 HPRC:pbsv.DEL.5141; chr20:62373538-62373678 HPRC:pbsv.DEL.5142; chr20:62373574-62373714 dbVar; 20:62376895-62377026 CMRI:14_pbsv.DEL.1231_duplicate5; chr20:62376896-62377026 dbVar; chr20:62383727-62383885 dbVar; po_B_loss_someG_coord : 20:62373486-62373556 CMRI:5_pbsv.DEL.1206_duplicate6; 20:62373538-62373678 CMRI:1_pbsv.DEL.849_duplicate7; 20:62373538-62373748 CMRI:27_pbsv.DEL.756_duplicate6; chr20:62373678-62373748 HPRC:pbsv.DEL.5143; 20:62376896-62377026 1000g; chr20:62376896-62377026 gnomAD-SV_v3_DEL_chr20_cafcca3b; chr20:62384062-62385369 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62372985-62373366 Repeat_type_left : HAL1b Gap_left : . GC_content_left : 0.625 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62384306-62384369; 20:62384370-62384674 Repeat_type_right : L1MD; AluJb Gap_right : . GC_content_right : 0.485 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11019 |
splitAnnotation_mode : split |
LOC105372708Gene_name : LOC105372708; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : XR_936966 Tx_version : 4 Tx_start : 62373814 Tx_end : 62378827 Exon_count : 2 Overlapped_tx_length : 5013 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62373814 Intersect_end : 62378827 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2198 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62196748-62197065 Repeat_type_left : AluSq2 Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.550 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2198 |
splitAnnotation_mode : split |
MTG2Gene_name : MTG2; LOEUF_bin : 5 GnomAD_pLI : 3.3086e-04 ExAC_pLI : 6.0886e-04 HI : . TS : . DDD_HI_percent : 81.42 ACMG : . ExAC_cnvZ : -1.32774353389922 ExAC_delZ : -2.09512792694799 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 0.17073896031188 ExAC_misZ : 0.503074989693042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26164 |
intron3-intron5Location : intron3-intron5 CytoBand : q13.33 Location2 : CDS Tx : NM_001384347 Tx_version : 1 Tx_start : 62183027 Tx_end : 62203568 Exon_count : 7 Overlapped_tx_length : 2198 Overlapped_CDS_length : 335 Overlapped_CDS_percent : 26 Frameshift : yes Dist_nearest_SS : 117 Nearest_SS_type : 3' Intersect_start : 62196803 Intersect_end : 62199001 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3354 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62185351-62195070 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.360 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3354 |
splitAnnotation_mode : split |
MTG2Gene_name : MTG2; LOEUF_bin : 5 GnomAD_pLI : 3.3086e-04 ExAC_pLI : 6.0886e-04 HI : . TS : . DDD_HI_percent : 81.42 ACMG : . ExAC_cnvZ : -1.32774353389922 ExAC_delZ : -2.09512792694799 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 0.17073896031188 ExAC_misZ : 0.503074989693042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26164 |
intron2-intron3Location : intron2-intron3 CytoBand : q13.33 Location2 : CDS Tx : NM_001384347 Tx_version : 1 Tx_start : 62183027 Tx_end : 62203568 Exon_count : 7 Overlapped_tx_length : 3354 Overlapped_CDS_length : 148 Overlapped_CDS_percent : 11 Frameshift : yes Dist_nearest_SS : 194 Nearest_SS_type : 3' Intersect_start : 62194303 Intersect_end : 62197657 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1500 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morb[...]RE_gene : SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62185351-62195070 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.490 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1500 |
splitAnnotation_mode : split |
MTG2Gene_name : MTG2; LOEUF_bin : 5 GnomAD_pLI : 3.3086e-04 ExAC_pLI : 6.0886e-04 HI : . TS : . DDD_HI_percent : 81.42 ACMG : . ExAC_cnvZ : -1.32774353389922 ExAC_delZ : -2.09512792694799 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 0.17073896031188 ExAC_misZ : 0.503074989693042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26164 |
intron2-exon3Location : intron2-exon3 CytoBand : q13.33 Location2 : CDS Tx : NM_001384347 Tx_version : 1 Tx_start : 62183027 Tx_end : 62203568 Exon_count : 7 Overlapped_tx_length : 1500 Overlapped_CDS_length : 2 Overlapped_CDS_percent : 0 Frameshift : yes Dist_nearest_SS : 2 Nearest_SS_type : 3' Intersect_start : 62194303 Intersect_end : 62195803 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5198 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62185351-62195070 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.550 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 5198 |
splitAnnotation_mode : split |
MTG2Gene_name : MTG2; LOEUF_bin : 5 GnomAD_pLI : 3.3086e-04 ExAC_pLI : 6.0886e-04 HI : . TS : . DDD_HI_percent : 81.42 ACMG : . ExAC_cnvZ : -1.32774353389922 ExAC_delZ : -2.09512792694799 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 0.17073896031188 ExAC_misZ : 0.503074989693042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26164 |
intron2-intron5Location : intron2-intron5 CytoBand : q13.33 Location2 : CDS Tx : NM_001384347 Tx_version : 1 Tx_start : 62183027 Tx_end : 62203568 Exon_count : 7 Overlapped_tx_length : 5198 Overlapped_CDS_length : 483 Overlapped_CDS_percent : 37 Frameshift : no Dist_nearest_SS : 117 Nearest_SS_type : 3' Intersect_start : 62193803 Intersect_end : 62199001 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5403 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62185351-62195070 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.625 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.550 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 5403 |
splitAnnotation_mode : split |
MTG2Gene_name : MTG2; LOEUF_bin : 5 GnomAD_pLI : 3.3086e-04 ExAC_pLI : 6.0886e-04 HI : . TS : . DDD_HI_percent : 81.42 ACMG : . ExAC_cnvZ : -1.32774353389922 ExAC_delZ : -2.09512792694799 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 0.17073896031188 ExAC_misZ : 0.503074989693042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26164 |
exon2-intron5Location : exon2-intron5 CytoBand : q13.33 Location2 : CDS Tx : NM_001384347 Tx_version : 1 Tx_start : 62183027 Tx_end : 62203568 Exon_count : 7 Overlapped_tx_length : 5403 Overlapped_CDS_length : 563 Overlapped_CDS_percent : 44 Frameshift : yes Dist_nearest_SS : 80 Nearest_SS_type : 5' Intersect_start : 62193598 Intersect_end : 62199001 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4059 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morb[...]RE_gene : SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62185351-62195070 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.625 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.360 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4059 |
splitAnnotation_mode : split |
MTG2Gene_name : MTG2; LOEUF_bin : 5 GnomAD_pLI : 3.3086e-04 ExAC_pLI : 6.0886e-04 HI : . TS : . DDD_HI_percent : 81.42 ACMG : . ExAC_cnvZ : -1.32774353389922 ExAC_delZ : -2.09512792694799 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 0.17073896031188 ExAC_misZ : 0.503074989693042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26164 |
exon2-intron3Location : exon2-intron3 CytoBand : q13.33 Location2 : CDS Tx : NM_001384347 Tx_version : 1 Tx_start : 62183027 Tx_end : 62203568 Exon_count : 7 Overlapped_tx_length : 4059 Overlapped_CDS_length : 228 Overlapped_CDS_percent : 17 Frameshift : no Dist_nearest_SS : 80 Nearest_SS_type : 5' Intersect_start : 62193598 Intersect_end : 62197657 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8132 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62185351-62195070 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.605 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 8132 |
splitAnnotation_mode : split |
MTG2Gene_name : MTG2; LOEUF_bin : 5 GnomAD_pLI : 3.3086e-04 ExAC_pLI : 6.0886e-04 HI : . TS : . DDD_HI_percent : 81.42 ACMG : . ExAC_cnvZ : -1.32774353389922 ExAC_delZ : -2.09512792694799 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 0.17073896031188 ExAC_misZ : 0.503074989693042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26164 |
exon1-exon6Location : exon1-exon6 CytoBand : q13.33 Location2 : 5'UTR-3'UTR Tx : XM_017027805 Tx_version : 2 Tx_start : 62189508 Tx_end : 62203568 Exon_count : 7 Overlapped_tx_length : 8132 Overlapped_CDS_length : 1305 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : 488 Nearest_SS_type : 5' Intersect_start : 62193136 Intersect_end : 62201268 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 398 Gene_count : 1 |
fullAnnotation_mode : full |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : MTG2 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62178565-62178761 Repeat_type_left : AluJb Gap_left : . GC_content_left : 0.510 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.535 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 398 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
intron11-intron11Location : intron11-intron11 CytoBand : q13.33 Location2 : UTR Tx : NR_125980 Tx_version : 3 Tx_start : 62143768 Tx_end : 62182485 Exon_count : 13 Overlapped_tx_length : 398 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 74 Nearest_SS_type : 3' Intersect_start : 62178709 Intersect_end : 62179107 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 898 Gene_count : 1 |
fullAnnotation_mode : full |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : MTG2 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62178017-62178135; 20:62178136-62178452 Repeat_type_left : AluJo; AluSz Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.535 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 898 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
intron11-intron11Location : intron11-intron11 CytoBand : q13.33 Location2 : UTR Tx : NR_125980 Tx_version : 3 Tx_start : 62143768 Tx_end : 62182485 Exon_count : 13 Overlapped_tx_length : 898 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 74 Nearest_SS_type : 3' Intersect_start : 62178209 Intersect_end : 62179107 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : MTG2 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62178017-62178135; 20:62178136-62178452 Repeat_type_left : AluJo; AluSz Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62178565-62178761 Repeat_type_right : AluJb Gap_right : . GC_content_right : 0.510 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
intron11-intron11Location : intron11-intron11 CytoBand : q13.33 Location2 : UTR Tx : NR_125980 Tx_version : 3 Tx_start : 62143768 Tx_end : 62182485 Exon_count : 13 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 472 Nearest_SS_type : 3' Intersect_start : 62178209 Intersect_end : 62178709 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3779 Gene_count : 1 |
fullAnnotation_mode : full |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : MTG2 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62175407-62175554 Repeat_type_left : L2b Gap_left : . GC_content_left : 0.635 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.535 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3779 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
intron11-intron11Location : intron11-intron11 CytoBand : q13.33 Location2 : UTR Tx : NR_125980 Tx_version : 3 Tx_start : 62143768 Tx_end : 62182485 Exon_count : 13 Overlapped_tx_length : 3779 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 74 Nearest_SS_type : 3' Intersect_start : 62175328 Intersect_end : 62179107 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 988 Gene_count : 1 |
fullAnnotation_mode : full |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : MTG2 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.675 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62173428-62173725; 20:62173740-62174034 Repeat_type_right : AluSx1; AluJb Gap_right : . GC_content_right : 0.500 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 988 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
exon9-intron9Location : exon9-intron9 CytoBand : q13.33 Location2 : CDS Tx : XM_005260389 Tx_version : 4 Tx_start : 62143768 Tx_end : 62176318 Exon_count : 10 Overlapped_tx_length : 988 Overlapped_CDS_length : 56 Overlapped_CDS_percent : 4 Frameshift : yes Dist_nearest_SS : 56 Nearest_SS_type : 5' Intersect_start : 62172745 Intersect_end : 62173733 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8581 Gene_count : 1 |
fullAnnotation_mode : full |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : MTG2 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morb[...]RE_gene : SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62165715-62165810 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62165152-62165272 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.605 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62173428-62173725; 20:62173740-62174034 Repeat_type_right : AluSx1; AluJb Gap_right : . GC_content_right : 0.500 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 8581 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
intron7-intron9Location : intron7-intron9 CytoBand : q13.33 Location2 : CDS Tx : XM_005260389 Tx_version : 4 Tx_start : 62143768 Tx_end : 62176318 Exon_count : 10 Overlapped_tx_length : 8581 Overlapped_CDS_length : 213 Overlapped_CDS_percent : 17 Frameshift : no Dist_nearest_SS : 269 Nearest_SS_type : 3' Intersect_start : 62165152 Intersect_end : 62173733 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3534 Gene_count : 1 |
fullAnnotation_mode : full |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : MTG2 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62165715-62165810 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62165152-62165272 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.605 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62168539-62168827 Repeat_type_right : AluJb Gap_right : . GC_content_right : 0.560 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3534 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
intron7-intron8Location : intron7-intron8 CytoBand : q13.33 Location2 : CDS Tx : XM_005260389 Tx_version : 4 Tx_start : 62143768 Tx_end : 62176318 Exon_count : 10 Overlapped_tx_length : 3534 Overlapped_CDS_length : 93 Overlapped_CDS_percent : 7 Frameshift : no Dist_nearest_SS : 269 Nearest_SS_type : 3' Intersect_start : 62165152 Intersect_end : 62168686 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11386 Gene_count : 1 |
fullAnnotation_mode : full |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : MTG2 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62165715-62165810 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62161939-62162257; 20:62162294-62162603 Repeat_type_left : AluJb; AluSx Gap_left : . GC_content_left : 0.500 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62173428-62173725; 20:62173740-62174034 Repeat_type_right : AluSx1; AluJb Gap_right : . GC_content_right : 0.500 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11386 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
intron4-intron9Location : intron4-intron9 CytoBand : q13.33 Location2 : CDS Tx : XM_005260389 Tx_version : 4 Tx_start : 62143768 Tx_end : 62176318 Exon_count : 10 Overlapped_tx_length : 11386 Overlapped_CDS_length : 660 Overlapped_CDS_percent : 52 Frameshift : no Dist_nearest_SS : 404 Nearest_SS_type : 3' Intersect_start : 62162347 Intersect_end : 62173733 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1943 Gene_count : 1 |
fullAnnotation_mode : full |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : MTG2 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62161939-62162257; 20:62162294-62162603 Repeat_type_left : AluJb; AluSx Gap_left : . GC_content_left : 0.500 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.685 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1943 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
intron4-intron7Location : intron4-intron7 CytoBand : q13.33 Location2 : CDS Tx : XM_005260389 Tx_version : 4 Tx_start : 62143768 Tx_end : 62176318 Exon_count : 10 Overlapped_tx_length : 1943 Overlapped_CDS_length : 447 Overlapped_CDS_percent : 35 Frameshift : no Dist_nearest_SS : 44 Nearest_SS_type : 5' Intersect_start : 62162347 Intersect_end : 62164290 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 231 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105372706Gene_name : LOC105372706; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372705 Closest_right : LSM14B |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62120584-62120654 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.570 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62120778-62121082 Repeat_type_right : AluJr Gap_right : . GC_content_right : 0.370 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 231 |
splitAnnotation_mode : split |
LOC105372706Gene_name : LOC105372706; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-intron1Location : intron1-intron1 CytoBand : q13.33 Location2 : UTR Tx : XR_936962 Tx_version : 2 Tx_start : 62101142 Tx_end : 62123684 Exon_count : 4 Overlapped_tx_length : 231 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 931 Nearest_SS_type : 3' Intersect_start : 62120524 Intersect_end : 62120755 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
CDH4Gene_name : CDH4; LOEUF_bin : 1 GnomAD_pLI : 7.4348e-01 ExAC_pLI : 9.6699e-01 HI : . TS : . DDD_HI_percent : 36.97 ExAC_cnvZ : 0.359975831988571 ExAC_delZ : 1.0263721335426 ExAC_dupZ : -0.0547762026548261 ExAC_synZ : 0.441877137052085 ExAC_misZ : 2.49014599267761 Closest_left : LOC105372701 Closest_right : LOC105372703 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.510 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
CDH4Gene_name : CDH4; LOEUF_bin : 1 GnomAD_pLI : 7.4348e-01 ExAC_pLI : 9.6699e-01 HI : . TS : . DDD_HI_percent : 36.97 ACMG : . ExAC_cnvZ : 0.359975831988571 ExAC_delZ : 1.0263721335426 ExAC_dupZ : -0.0547762026548261 ExAC_synZ : 0.441877137052085 ExAC_misZ : 2.49014599267761 GenCC_disease : multiple congenital anomalies/dysmorphic syndrome GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 1002 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.33 Location2 : CDS Tx : NM_001794 Tx_version : 5 Tx_start : 61252260 Tx_end : 61940617 Exon_count : 16 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 172636 Nearest_SS_type : 5' Intersect_start : 61427573 Intersect_end : 61428073 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 18853 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.73 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.460 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.660 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 18853 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
exon1-intron2Location : exon1-intron2 CytoBand : q13.32 Location2 : 5'UTR-CDS Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 18853 Overlapped_CDS_length : 82 Overlapped_CDS_percent : 5 Frameshift : yes Dist_nearest_SS : 308 Nearest_SS_type : 5' Intersect_start : 58496113 Intersect_end : 58514966 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1580 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.460 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58497390-58497777 Repeat_type_right : MLT1B Gap_right : . GC_content_right : 0.490 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1580 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.32 Location2 : CDS Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 1580 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 16123 Nearest_SS_type : 5' Intersect_start : 58496113 Intersect_end : 58497693 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 887 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58489796-58490284 Repeat_type_left : Arthur1 Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58490287-58490797; 20:58490830-58492610 Repeat_type_right : Arthur1; L1ME3F Gap_right : . GC_content_right : 0.395 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 887 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.32 Location2 : CDS Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 887 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 19221 Nearest_SS_type : 3' Intersect_start : 58489968 Intersect_end : 58490855 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 18427 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.72 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58476184-58476488; 20:58476490-58476597 Repeat_type_left : AluSc8; L2a Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58494753-58495024 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.600 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 18427 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.32 Location2 : CDS Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 18427 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5718 Nearest_SS_type : 3' Intersect_start : 58476465 Intersect_end : 58494892 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11211 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.44 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58476184-58476488; 20:58476490-58476597 Repeat_type_left : AluSc8; L2a Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58487292-58487933 Repeat_type_right : L1ME3F Gap_right : . GC_content_right : 0.365 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11211 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.32 Location2 : CDS Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 11211 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5718 Nearest_SS_type : 3' Intersect_start : 58476465 Intersect_end : 58487676 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 650 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58476184-58476488; 20:58476490-58476597 Repeat_type_left : AluSc8; L2a Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58477037-58477787 Repeat_type_right : L1MC4a Gap_right : . GC_content_right : 0.355 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 650 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.32 Location2 : CDS Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 650 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5718 Nearest_SS_type : 3' Intersect_start : 58476465 Intersect_end : 58477115 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 922 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.645 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58468567-58468854; 20:58468913-58469183 Repeat_type_right : AluSz; MER113 Gap_right : . GC_content_right : 0.435 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 922 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron3-intron3Location : intron3-intron3 CytoBand : q13.32 Location2 : CDS Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 922 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 318 Nearest_SS_type : 3' Intersect_start : 58467976 Intersect_end : 58468898 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58461456-58461488 Repeat_type_left : G-rich Gap_left : . GC_content_left : 0.670 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58461665-58462098 Repeat_type_right : L2b Gap_right : . GC_content_right : 0.500 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron4-exon5Location : intron4-exon5 CytoBand : q13.32 Location2 : CDS Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 500 Overlapped_CDS_length : 44 Overlapped_CDS_percent : 2 Frameshift : yes Dist_nearest_SS : 44 Nearest_SS_type : 3' Intersect_start : 58461510 Intersect_end : 58462010 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6237 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.24 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58455287-58455685; 20:58455707-58455755 Repeat_type_left : HAL1; L2b Gap_left : . GC_content_left : 0.445 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58461665-58462098 Repeat_type_right : L2b Gap_right : . GC_content_right : 0.500 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6237 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron4-txEndLocation : intron4-txEnd CytoBand : q13.32 Location2 : CDS-3'UTR Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 2910 Overlapped_CDS_length : 765 Overlapped_CDS_percent : 49 Frameshift : no Dist_nearest_SS : 456 Nearest_SS_type : 3' Intersect_start : 58459100 Intersect_end : 58462010 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 12904 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105372687Gene_name : LOC105372687; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC112268270 Closest_right : MIR4325 |
.Location : . CytoBand : q13.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248 po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310 po_P_loss_percent : 0.36; 0.50 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:57275515-57275840 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.465 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:57288460-57288643; 20:57288789-57289051 Repeat_type_right : MIRb; MIRb Gap_right : . GC_content_right : 0.450 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 12904 |
splitAnnotation_mode : split |
LOC105372687Gene_name : LOC105372687; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron8-intron11Location : intron8-intron11 CytoBand : q13.31 Location2 : UTR Tx : XR_007067670 Tx_version : 1 Tx_start : 57274357 Tx_end : 57329664 Exon_count : 12 Overlapped_tx_length : 12904 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 85 Nearest_SS_type : 5' Intersect_start : 57275820 Intersect_end : 57288724 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 724 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105372649Gene_name : LOC105372649; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904925 Closest_right : KCNB1 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.01; 0.02; 0.03; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:49354598-49355437 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49353792-49354094; 20:49354095-49354168; 20:49354205-49354387 Repeat_type_left : AluJb; L1ME4b; MIRb Gap_left : . GC_content_left : 0.345 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49354828-49354944; 20:49354946-49355109 Repeat_type_right : MIRb; MLT1F Gap_right : . GC_content_right : 0.545 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 724 |
splitAnnotation_mode : split |
LOC105372649Gene_name : LOC105372649; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : q13.13 Location2 : UTR Tx : XR_001754659 Tx_version : 2 Tx_start : 49330333 Tx_end : 49439020 Exon_count : 4 Overlapped_tx_length : 724 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 22118 Nearest_SS_type : 5' Intersect_start : 49354142 Intersect_end : 49354866 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2011 Gene_count : 1 |
fullAnnotation_mode : full |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 Closest_left : CSE1L Closest_right : DDX27 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.04; 0.05; 0.09; 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:49210026-49218326 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49208931-49209234; 20:49209262-49209411 Repeat_type_left : AluSx; LTR78 Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49210799-49211375; 20:49211376-49211505 Repeat_type_right : L1MB5; FAM Gap_right : . GC_content_right : 0.390 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2011 |
splitAnnotation_mode : split |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6780 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : 5'UTR Tx : NM_001319135 Tx_version : 2 Tx_start : 49113338 Tx_end : 49219295 Exon_count : 15 Overlapped_tx_length : 2011 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7897 Nearest_SS_type : 5' Intersect_start : 49209327 Intersect_end : 49211338 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4296 Gene_count : 1 |
fullAnnotation_mode : full |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 Closest_left : CSE1L Closest_right : DDX27 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.08; 0.10; 0.20; 0.16 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:49210026-49218326 dbVar; chr20:49210026-49218326 dbVar po_B_loss_someG_coord : chr20:49208763-49209084 dbVar; chr20:49208763-49209084 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49208502-49208544; 20:49208545-49208622; 20:49208623-49208921 Repeat_type_left : LTR78; AluJr; AluY Gap_left : . GC_content_left : 0.495 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49212616-49212897; 20:49212997-49213228 Repeat_type_right : AluSp; AluJb Gap_right : . GC_content_right : 0.395 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4296 Gene_count : 1 |
fullAnnotation_mode : full |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 Closest_left : CSE1L Closest_right : DDX27 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.08; 0.10; 0.20; 0.16 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:49210026-49218326 dbVar; chr20:49210026-49218326 dbVar po_B_loss_someG_coord : chr20:49208763-49209084 dbVar; chr20:49208763-49209084 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49208502-49208544; 20:49208545-49208622; 20:49208623-49208921 Repeat_type_left : LTR78; AluJr; AluY Gap_left : . GC_content_left : 0.495 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49212616-49212897; 20:49212997-49213228 Repeat_type_right : AluSp; AluJb Gap_right : . GC_content_right : 0.395 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4296 |
splitAnnotation_mode : split |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6780 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : 5'UTR Tx : NM_001319135 Tx_version : 2 Tx_start : 49113338 Tx_end : 49219295 Exon_count : 15 Overlapped_tx_length : 4296 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6310 Nearest_SS_type : 5' Intersect_start : 49208629 Intersect_end : 49212925 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4296 |
splitAnnotation_mode : split |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6780 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : 5'UTR Tx : NM_001319135 Tx_version : 2 Tx_start : 49113338 Tx_end : 49219295 Exon_count : 15 Overlapped_tx_length : 4296 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6310 Nearest_SS_type : 5' Intersect_start : 49208629 Intersect_end : 49212925 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2709 Gene_count : 1 |
fullAnnotation_mode : full |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 Closest_left : CSE1L Closest_right : DDX27 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.05; 0.06; 0.12; 0.10 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:49210026-49218326 dbVar po_B_loss_someG_coord : chr20:49208763-49209084 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49208502-49208544; 20:49208545-49208622; 20:49208623-49208921 Repeat_type_left : LTR78; AluJr; AluY Gap_left : . GC_content_left : 0.495 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49210799-49211375; 20:49211376-49211505 Repeat_type_right : L1MB5; FAM Gap_right : . GC_content_right : 0.390 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2709 |
splitAnnotation_mode : split |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6780 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : 5'UTR Tx : NM_001319135 Tx_version : 2 Tx_start : 49113338 Tx_end : 49219295 Exon_count : 15 Overlapped_tx_length : 2709 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7897 Nearest_SS_type : 5' Intersect_start : 49208629 Intersect_end : 49211338 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6954 Gene_count : 1 |
fullAnnotation_mode : full |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 Closest_left : CSE1L Closest_right : DDX27 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbi[...]RE_gene : ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.12; 0.16; 0.32; 0.26 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:49210026-49218326 dbVar po_B_loss_someG_coord : chr20:49208763-49209084 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49205673-49205972; 20:49205976-49206293 Repeat_type_left : AluSp; AluSz Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49212616-49212897; 20:49212997-49213228 Repeat_type_right : AluSp; AluJb Gap_right : . GC_content_right : 0.395 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6954 |
splitAnnotation_mode : split |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6780 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : 5'UTR Tx : NM_001319135 Tx_version : 2 Tx_start : 49113338 Tx_end : 49219295 Exon_count : 15 Overlapped_tx_length : 6954 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6310 Nearest_SS_type : 5' Intersect_start : 49205971 Intersect_end : 49212925 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5367 Gene_count : 1 |
fullAnnotation_mode : full |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 Closest_left : CSE1L Closest_right : DDX27 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ARFGEF2 (morbid/RE=EA_enhancer); ZNFX1 (morbi[...]RE_gene : ARFGEF2 (morbid/RE=EA_enhancer); ZNFX1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.10; 0.12; 0.24; 0.20 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:49210026-49218326 dbVar po_B_loss_someG_coord : chr20:49208763-49209084 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49205673-49205972; 20:49205976-49206293 Repeat_type_left : AluSp; AluSz Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49210799-49211375; 20:49211376-49211505 Repeat_type_right : L1MB5; FAM Gap_right : . GC_content_right : 0.390 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 5367 |
splitAnnotation_mode : split |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6780 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : 5'UTR Tx : NM_001319135 Tx_version : 2 Tx_start : 49113338 Tx_end : 49219295 Exon_count : 15 Overlapped_tx_length : 5367 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7897 Nearest_SS_type : 5' Intersect_start : 49205971 Intersect_end : 49211338 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8624 Gene_count : 1 |
fullAnnotation_mode : full |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 Closest_left : CSE1L Closest_right : DDX27 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbi[...]RE_gene : ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.15; 0.20; 0.39; 0.32 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:49204621-49204643 HPRC:pbsv.DEL.3719; chr20:49210026-49218326 dbVar po_B_loss_someG_coord : chr20:49204611-49204666 dbVar; chr20:49208763-49209084 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49203378-49203480 Repeat_type_left : L1M4 Gap_left : . GC_content_left : 0.335 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49211990-49212286 Repeat_type_right : AluJb Gap_right : . GC_content_right : 0.515 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 8624 |
splitAnnotation_mode : split |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6780 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : 5'UTR Tx : NM_001319135 Tx_version : 2 Tx_start : 49113338 Tx_end : 49219295 Exon_count : 15 Overlapped_tx_length : 8624 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7081 Nearest_SS_type : 5' Intersect_start : 49203530 Intersect_end : 49212154 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 34335 Gene_count : 1 |
fullAnnotation_mode : full |
PREX1Gene_name : PREX1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 51.42 ExAC_cnvZ : -0.975991099080182 ExAC_delZ : -2.31885625557015 ExAC_dupZ : -0.23337501203107 ExAC_synZ : 0.686006138153555 ExAC_misZ : 4.3114490950255 Closest_left : LOC105372646 Closest_right : ARFGEF2 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbi[...]RE_gene : ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881 po_P_loss_coord : 20:44356405-49982509 po_P_loss_percent : 0.61 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.555 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:48732640-48733095 Repeat_type_right : MLT1J Gap_right : . GC_content_right : 0.520 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 34335 |
splitAnnotation_mode : split |
PREX1Gene_name : PREX1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 51.42 ACMG : . ExAC_cnvZ : -0.975991099080182 ExAC_delZ : -2.31885625557015 ExAC_dupZ : -0.23337501203107 ExAC_synZ : 0.686006138153555 ExAC_misZ : 4.3114490950255 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57580 |
intron4-intron7Location : intron4-intron7 CytoBand : q13.13 Location2 : CDS Tx : NM_020820 Tx_version : 4 Tx_start : 48624251 Tx_end : 48827999 Exon_count : 40 Overlapped_tx_length : 34335 Overlapped_CDS_length : 398 Overlapped_CDS_percent : 7 Frameshift : yes Dist_nearest_SS : 1801 Nearest_SS_type : 5' Intersect_start : 48698409 Intersect_end : 48732744 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4018 Gene_count : 1 |
fullAnnotation_mode : full |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 Closest_left : NCOA3 Closest_right : LOC124904922 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.03; 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:47710214-47710719 dbVar; chr20:47710218-47710717 dbVar; 20:47710219-47710717 esv3645974 po_B_loss_someG_coord : chr20:47710086-47710700 gnomAD-SV_v3_DEL_chr20_e3fe021e; 20:47710215-47710700 IMH; 20:47710219-47710717 1000g |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:47706747-47706942; 20:47706945-47706980; 20:47706981-47707287 Repeat_type_left : LTR79; LTR36; AluSx Gap_left : . GC_content_left : 0.415 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.540 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4018 |
splitAnnotation_mode : split |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ACMG : . ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55959 |
intron3-intron3Location : intron3-intron3 CytoBand : q13.12 Location2 : CDS Tx : NM_001387049 Tx_version : 1 Tx_start : 47657405 Tx_end : 47764428 Exon_count : 21 Overlapped_tx_length : 4018 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4357 Nearest_SS_type : 3' Intersect_start : 47707027 Intersect_end : 47711045 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 Closest_left : NCOA3 Closest_right : LOC124904922 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:47694829-47694935 Repeat_type_left : MIRc Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:47695069-47695278; 20:47695279-47695611 Repeat_type_right : MER58B; L1MB1 Gap_right : . GC_content_right : 0.355 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ACMG : . ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55959 |
intron4-intron4Location : intron4-intron4 CytoBand : q13.12 Location2 : CDS Tx : NM_001387049 Tx_version : 1 Tx_start : 47657405 Tx_end : 47764428 Exon_count : 21 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4551 Nearest_SS_type : 3' Intersect_start : 47694846 Intersect_end : 47695346 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2081 Gene_count : 1 |
fullAnnotation_mode : full |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 Closest_left : NCOA3 Closest_right : LOC124904922 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.02; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.445 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:47695069-47695278; 20:47695279-47695611 Repeat_type_right : MER58B; L1MB1 Gap_right : . GC_content_right : 0.355 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2081 |
splitAnnotation_mode : split |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ACMG : . ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55959 |
intron4-intron4Location : intron4-intron4 CytoBand : q13.12 Location2 : CDS Tx : NM_001387049 Tx_version : 1 Tx_start : 47657405 Tx_end : 47764428 Exon_count : 21 Overlapped_tx_length : 2081 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2970 Nearest_SS_type : 3' Intersect_start : 47693265 Intersect_end : 47695346 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 28070 Gene_count : 1 |
fullAnnotation_mode : full |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 Closest_left : NCOA3 Closest_right : LOC124904922 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SLC2A10 (morbid/RE=EA_enhancer); TP53RK (morb[...]RE_gene : SLC2A10 (morbid/RE=EA_enhancer); TP53RK (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.24; 0.50 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:47710086-47710700 gnomAD-SV_v3_DEL_chr20_e3fe021e; 20:47710215-47710700 IMH; 20:47710219-47710717 1000g; po_B_loss_someG_coord : chr20:47703145-47706648 dbVar; chr20:47710214-47710719 dbVar; chr20:47710218-47710717 dbVar; 20:47710219-47710717 esv3645974 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:47683257-47683539 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.525 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 28070 |
splitAnnotation_mode : split |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ACMG : . ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55959 |
intron3-intron6Location : intron3-intron6 CytoBand : q13.12 Location2 : CDS Tx : NM_001387049 Tx_version : 1 Tx_start : 47657405 Tx_end : 47764428 Exon_count : 21 Overlapped_tx_length : 28070 Overlapped_CDS_length : 473 Overlapped_CDS_percent : 18 Frameshift : yes Dist_nearest_SS : 306 Nearest_SS_type : 3' Intersect_start : 47683475 Intersect_end : 47711545 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 Closest_left : NCOA3 Closest_right : LOC124904922 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
TP53RK (morbid/RE=EA_enhancer); RE_gene : TP53RK (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:47683257-47683539 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:47683755-47684171 Repeat_type_right : L1MB8 Gap_right : . GC_content_right : 0.485 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
SULF2Gene_name : SULF2; LOEUF_bin : 2 GnomAD_pLI : 1.0585e-02 ExAC_pLI : 8.7805e-01 HI : . TS : . DDD_HI_percent : 35.06 ACMG : . ExAC_cnvZ : -0.518523236340421 ExAC_delZ : -2.1340194685769 ExAC_dupZ : 0.917079281076292 ExAC_synZ : -0.0602961032654836 ExAC_misZ : 1.91655929898463 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55959 |
intron6-intron6Location : intron6-intron6 CytoBand : q13.12 Location2 : CDS Tx : NM_001387049 Tx_version : 1 Tx_start : 47657405 Tx_end : 47764428 Exon_count : 21 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 306 Nearest_SS_type : 3' Intersect_start : 47683475 Intersect_end : 47683975 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1772 Gene_count : 1 |
fullAnnotation_mode : full |
NCOA3Gene_name : NCOA3; LOEUF_bin : 1 GnomAD_pLI : 5.4065e-01 ExAC_pLI : 9.9992e-01 HI : . TS : . DDD_HI_percent : 16.22 ExAC_cnvZ : 1.4781806390142e-05 ExAC_delZ : -1.25129113368909 ExAC_dupZ : 0.967094670097161 ExAC_synZ : -0.511158738801683 ExAC_misZ : -0.505371555325067 Closest_left : LINC01754 Closest_right : SULF2 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.01; 0.01; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:47632382-47632685 Repeat_type_left : AluSg Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.300 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1772 |
splitAnnotation_mode : split |
NCOA3Gene_name : NCOA3; LOEUF_bin : 1 GnomAD_pLI : 5.4065e-01 ExAC_pLI : 9.9992e-01 HI : . TS : . DDD_HI_percent : 16.22 ACMG : . ExAC_cnvZ : 1.4781806390142e-05 ExAC_delZ : -1.25129113368909 ExAC_dupZ : 0.967094670097161 ExAC_synZ : -0.511158738801683 ExAC_misZ : -0.505371555325067 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8202 |
intron8-intron10Location : intron8-intron10 CytoBand : q13.12 Location2 : CDS Tx : NM_001174088 Tx_version : 2 Tx_start : 47501886 Tx_end : 47656872 Exon_count : 23 Overlapped_tx_length : 1772 Overlapped_CDS_length : 319 Overlapped_CDS_percent : 7 Frameshift : yes Dist_nearest_SS : 142 Nearest_SS_type : 5' Intersect_start : 47632565 Intersect_end : 47634337 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 473 Gene_count : 1 |
fullAnnotation_mode : full |
NCOA3Gene_name : NCOA3; LOEUF_bin : 1 GnomAD_pLI : 5.4065e-01 ExAC_pLI : 9.9992e-01 HI : . TS : . DDD_HI_percent : 16.22 ExAC_cnvZ : 1.4781806390142e-05 ExAC_delZ : -1.25129113368909 ExAC_dupZ : 0.967094670097161 ExAC_synZ : -0.511158738801683 ExAC_misZ : -0.505371555325067 Closest_left : LINC01754 Closest_right : SULF2 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:47604860-47605165 Repeat_type_left : AluSc Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:47605394-47605415; 20:47605420-47605463; 20:47605534-47605832 Repeat_type_right : (TG)n; (AT)n; L1MEi Gap_right : . GC_content_right : 0.285 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 473 |
splitAnnotation_mode : split |
NCOA3Gene_name : NCOA3; LOEUF_bin : 1 GnomAD_pLI : 5.4065e-01 ExAC_pLI : 9.9992e-01 HI : . TS : . DDD_HI_percent : 16.22 ACMG : . ExAC_cnvZ : 1.4781806390142e-05 ExAC_delZ : -1.25129113368909 ExAC_dupZ : 0.967094670097161 ExAC_synZ : -0.511158738801683 ExAC_misZ : -0.505371555325067 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8202 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.12 Location2 : 5'UTR Tx : NM_001174087 Tx_version : 2 Tx_start : 47501886 Tx_end : 47656872 Exon_count : 23 Overlapped_tx_length : 473 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 16779 Nearest_SS_type : 3' Intersect_start : 47604976 Intersect_end : 47605449 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 637 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.00; 0.01; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:46266030-46266050 Repeat_type_left : (TC)n Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:46266639-46266736 Repeat_type_right : MIRc Gap_right : . GC_content_right : 0.520 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 637 |
splitAnnotation_mode : split |
CDH22Gene_name : CDH22; LOEUF_bin : 2 GnomAD_pLI : 4.9990e-01 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 39.18 ACMG : . ExAC_cnvZ : -0.265894049980366 ExAC_delZ : -1.57826861842765 ExAC_dupZ : 0.88145142961894 ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64405 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.12 Location2 : 5'UTR Tx : NM_021248 Tx_version : 3 Tx_start : 46173738 Tx_end : 46308498 Exon_count : 12 Overlapped_tx_length : 637 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 14447 Nearest_SS_type : 3' Intersect_start : 46266140 Intersect_end : 46266777 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2588 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.02; 0.02; 0.02; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:46265339-46265787 Repeat_type_left : L1ME3B Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:46267826-46268132 Repeat_type_right : LTR16 Gap_right : . GC_content_right : 0.525 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2588 |
splitAnnotation_mode : split |
CDH22Gene_name : CDH22; LOEUF_bin : 2 GnomAD_pLI : 4.9990e-01 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 39.18 ACMG : . ExAC_cnvZ : -0.265894049980366 ExAC_delZ : -1.57826861842765 ExAC_dupZ : 0.88145142961894 ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64405 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.12 Location2 : 5'UTR Tx : NM_021248 Tx_version : 3 Tx_start : 46173738 Tx_end : 46308498 Exon_count : 12 Overlapped_tx_length : 2588 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 13852 Nearest_SS_type : 3' Intersect_start : 46265545 Intersect_end : 46268133 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 10786 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.07; 0.09; 0.09; 0.19 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.545 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:46263191-46263235 Repeat_type_right : (ATGG)n Gap_right : . GC_content_right : 0.505 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 10786 |
splitAnnotation_mode : split |
CDH22Gene_name : CDH22; LOEUF_bin : 2 GnomAD_pLI : 4.9990e-01 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 39.18 ACMG : . ExAC_cnvZ : -0.265894049980366 ExAC_delZ : -1.57826861842765 ExAC_dupZ : 0.88145142961894 ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64405 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.12 Location2 : 5'UTR Tx : NM_021248 Tx_version : 3 Tx_start : 46173738 Tx_end : 46308498 Exon_count : 12 Overlapped_tx_length : 10786 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 710 Nearest_SS_type : 3' Intersect_start : 46252403 Intersect_end : 46263189 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
PCIF1Gene_name : PCIF1; LOEUF_bin : 0 GnomAD_pLI : 9.9999e-01 ExAC_pLI : 9.9996e-01 HI : . TS : . DDD_HI_percent : 33.86 ExAC_cnvZ : -0.754663266038326 ExAC_delZ : -2.14399435127864 ExAC_dupZ : 0.401368889845896 ExAC_synZ : -0.397716607571258 ExAC_misZ : 3.05295359715323 Closest_left : LOC107985388 Closest_right : ZNF335 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SLC12A5 (morbid/RE=EA_enhancer); CTSA (morbid[...]RE_gene : SLC12A5 (morbid/RE=EA_enhancer); CTSA (morbid/RE=EA_enhancer); ELMO2 (morbid/RE=EA_enhancer); MMP9 (morbid/RE=EA_enhancer); PIGT (morbid/RE=EA_enhancer); CD40 (morbid/RE=EA_enhancer); TNNC2 (morbid/RE=EA_enhancer); ZNF335 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509 po_P_loss_percent : 0.00; 0.00; 0.00; 0.02; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.625 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.545 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
PCIF1Gene_name : PCIF1; LOEUF_bin : 0 GnomAD_pLI : 9.9999e-01 ExAC_pLI : 9.9996e-01 HI : . TS : . DDD_HI_percent : 33.86 ACMG : . ExAC_cnvZ : -0.754663266038326 ExAC_delZ : -2.14399435127864 ExAC_dupZ : 0.401368889845896 ExAC_synZ : -0.397716607571258 ExAC_misZ : 3.05295359715323 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 63935 |
intron16-exon17Location : intron16-exon17 CytoBand : q13.12 Location2 : CDS-3'UTR Tx : NM_022104 Tx_version : 4 Tx_start : 45934682 Tx_end : 45948020 Exon_count : 17 Overlapped_tx_length : 500 Overlapped_CDS_length : 232 Overlapped_CDS_percent : 10 Frameshift : yes Dist_nearest_SS : 29 Nearest_SS_type : 3' Intersect_start : 45947494 Intersect_end : 45947994 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 882 Gene_count : 1 |
fullAnnotation_mode : full |
ZSWIM3Gene_name : ZSWIM3; LOEUF_bin : 4 GnomAD_pLI : 5.5178e-05 ExAC_pLI : 1.4133e-03 HI : . TS : . DDD_HI_percent : 63.99 ExAC_cnvZ : -1.16532721795091 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.206944086529295 ExAC_synZ : 0.0195079453944113 ExAC_misZ : 0.672643115053832 Closest_left : ACOT8 Closest_right : ZSWIM1 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ZNF335 (morbid/RE=EA_enhancer); CD40 (morbid/[...]RE_gene : ZNF335 (morbid/RE=EA_enhancer); CD40 (morbid/RE=EA_enhancer); TNNC2 (morbid/RE=EA_enhancer); PIGT (morbid/RE=EA_enhancer); MMP9 (morbid/RE=EA_enhancer); CTSA (morbid/RE=EA_enhancer); SLC12A5 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509 po_P_loss_percent : 0.01; 0.01; 0.01; 0.04; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:45867003-45867306; 20:45867307-45867669 Repeat_type_left : AluSx1; MER95 Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:45867917-45868420 Repeat_type_right : Tigger18a Gap_right : . GC_content_right : 0.405 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 882 |
splitAnnotation_mode : split |
ZSWIM3Gene_name : ZSWIM3; LOEUF_bin : 4 GnomAD_pLI : 5.5178e-05 ExAC_pLI : 1.4133e-03 HI : . TS : . DDD_HI_percent : 63.99 ACMG : . ExAC_cnvZ : -1.16532721795091 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.206944086529295 ExAC_synZ : 0.0195079453944113 ExAC_misZ : 0.672643115053832 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140831 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.12 Location2 : CDS Tx : NM_080752 Tx_version : 4 Tx_start : 45857613 Tx_end : 45879122 Exon_count : 2 Overlapped_tx_length : 882 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 8581 Nearest_SS_type : 3' Intersect_start : 45867250 Intersect_end : 45868132 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1928 Gene_count : 1 |
fullAnnotation_mode : full |
SNX21Gene_name : SNX21; LOEUF_bin : 7 GnomAD_pLI : 2.3202e-07 ExAC_pLI : 2.0814e-02 HI : . TS : . DDD_HI_percent : 52.89 ExAC_cnvZ : -0.967376589759247 ExAC_delZ : -2.37000668610324 ExAC_dupZ : 0.330056330954614 ExAC_synZ : 0.884073841726171 ExAC_misZ : 0.740927339991328 Closest_left : TNNC2 Closest_right : ACOT8 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509 po_P_loss_percent : 0.01; 0.02; 0.02; 0.08; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:45839234-45839547; 20:45839548-45839608; 20:45839609-45839924 Repeat_type_left : AluY; MER113; AluJr Gap_left : . GC_content_left : 0.410 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.560 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1928 |
splitAnnotation_mode : split |
SNX21Gene_name : SNX21; LOEUF_bin : 7 GnomAD_pLI : 2.3202e-07 ExAC_pLI : 2.0814e-02 HI : . TS : . DDD_HI_percent : 52.89 ACMG : . ExAC_cnvZ : -0.967376589759247 ExAC_delZ : -2.37000668610324 ExAC_dupZ : 0.330056330954614 ExAC_synZ : 0.884073841726171 ExAC_misZ : 0.740927339991328 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 90203 |
exon1-exon2Location : exon1-exon2 CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_005260608 Tx_version : 5 Tx_start : 45839479 Tx_end : 45843276 Exon_count : 2 Overlapped_tx_length : 1928 Overlapped_CDS_length : 828 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : 851 Nearest_SS_type : 5' Intersect_start : 45839607 Intersect_end : 45841535 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 1 |
fullAnnotation_mode : full |
KCNS1Gene_name : KCNS1; LOEUF_bin : 3 GnomAD_pLI : 1.1183e-01 ExAC_pLI : 3.6300e-01 HI : . TS : . DDD_HI_percent : 37.88 ExAC_cnvZ : -0.0788398642531181 ExAC_delZ : -0.888137588041883 ExAC_dupZ : 0.477247619417183 ExAC_synZ : 3.15383342677404 ExAC_misZ : 3.11285419851061 Closest_left : STK4 Closest_right : WFDC5 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509 po_P_loss_percent : 0.01; 0.01; 0.01; 0.04; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:45092739-45093020 Repeat_type_left : L2b Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.510 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
KCNS1Gene_name : KCNS1; LOEUF_bin : 3 GnomAD_pLI : 1.1183e-01 ExAC_pLI : 3.6300e-01 HI : . TS : . DDD_HI_percent : 37.88 ACMG : . ExAC_cnvZ : -0.0788398642531181 ExAC_delZ : -0.888137588041883 ExAC_dupZ : 0.477247619417183 ExAC_synZ : 3.15383342677404 ExAC_misZ : 3.11285419851061 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3787 |
exon4-exon4Location : exon4-exon4 CytoBand : q13.12 Location2 : 3'UTR Tx : NM_001322799 Tx_version : 2 Tx_start : 45091213 Tx_end : 45101127 Exon_count : 4 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1293 Nearest_SS_type : 3' Intersect_start : 45093047 Intersect_end : 45094047 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 9167 Gene_count : 1 |
fullAnnotation_mode : full |
KCNS1Gene_name : KCNS1; LOEUF_bin : 3 GnomAD_pLI : 1.1183e-01 ExAC_pLI : 3.6300e-01 HI : . TS : . DDD_HI_percent : 37.88 ExAC_cnvZ : -0.0788398642531181 ExAC_delZ : -0.888137588041883 ExAC_dupZ : 0.477247619417183 ExAC_synZ : 3.15383342677404 ExAC_misZ : 3.11285419851061 Closest_left : STK4 Closest_right : WFDC5 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ADA (morbid/RE=EA_enhancer); PIGT (morbid/RE=[...]RE_gene : ADA (morbid/RE=EA_enhancer); PIGT (morbid/RE=EA_enhancer); STK4 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509 po_P_loss_percent : 0.06; 0.07; 0.08; 0.38; 0.16 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:45084617-45084824; 20:45084868-45084962 Repeat_type_left : MIRb; MLT1N2 Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.510 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 9167 |
splitAnnotation_mode : split |
KCNS1Gene_name : KCNS1; LOEUF_bin : 3 GnomAD_pLI : 1.1183e-01 ExAC_pLI : 3.6300e-01 HI : . TS : . DDD_HI_percent : 37.88 ACMG : . ExAC_cnvZ : -0.0788398642531181 ExAC_delZ : -0.888137588041883 ExAC_dupZ : 0.477247619417183 ExAC_synZ : 3.15383342677404 ExAC_misZ : 3.11285419851061 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3787 |
exon4-txEndLocation : exon4-txEnd CytoBand : q13.12 Location2 : 3'UTR Tx : NM_001322799 Tx_version : 2 Tx_start : 45091213 Tx_end : 45101127 Exon_count : 4 Overlapped_tx_length : 2834 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1293 Nearest_SS_type : 3' Intersect_start : 45091213 Intersect_end : 45094047 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3460 Gene_count : 1 |
fullAnnotation_mode : full |
RIMS4Gene_name : RIMS4; LOEUF_bin : 3 GnomAD_pLI : 2.3281e-01 ExAC_pLI : 9.5277e-01 HI : . TS : . DDD_HI_percent : 29.9 ExAC_cnvZ : -0.899778291349545 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.788512248137551 ExAC_synZ : 0.734442996955268 ExAC_misZ : 3.56105232323752 Closest_left : KCNK15 Closest_right : YWHAB |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ADA (morbid/RE=EA_enhancer); PIGT (morbid/RE=[...]RE_gene : ADA (morbid/RE=EA_enhancer); PIGT (morbid/RE=EA_enhancer); STK4 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509 po_P_loss_percent : 0.02; 0.03; 0.03; 0.14; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:44806966-44807023 Repeat_type_right : MIR Gap_right : . GC_content_right : 0.465 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3460 |
splitAnnotation_mode : split |
RIMS4Gene_name : RIMS4; LOEUF_bin : 3 GnomAD_pLI : 2.3281e-01 ExAC_pLI : 9.5277e-01 HI : . TS : . DDD_HI_percent : 29.9 ACMG : . ExAC_cnvZ : -0.899778291349545 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.788512248137551 ExAC_synZ : 0.734442996955268 ExAC_misZ : 3.56105232323752 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140730 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.12 Location2 : CDS Tx : NM_001205317 Tx_version : 2 Tx_start : 44751807 Tx_end : 44810546 Exon_count : 6 Overlapped_tx_length : 3460 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3088 Nearest_SS_type : 5' Intersect_start : 44803626 Intersect_end : 44807086 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
TOX2Gene_name : TOX2; LOEUF_bin : 3 GnomAD_pLI : 3.1987e-02 ExAC_pLI : 6.7408e-01 HI : . TS : . DDD_HI_percent : 37.74 ExAC_cnvZ : -0.388796873769303 ExAC_delZ : -1.81719107302044 ExAC_dupZ : 0.910063942862999 ExAC_synZ : 0.838778443740044 ExAC_misZ : 0.711413277389895 Closest_left : LINC01728 Closest_right : JPH2 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118 po_P_loss_percent : 0.00; 0.00; 0.00; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43945105-43945298; 20:43945312-43945610 Repeat_type_left : L1ME4a; L1ME3G Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.520 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
TOX2Gene_name : TOX2; LOEUF_bin : 3 GnomAD_pLI : 3.1987e-02 ExAC_pLI : 6.7408e-01 HI : . TS : . DDD_HI_percent : 37.74 ACMG : . ExAC_cnvZ : -0.388796873769303 ExAC_delZ : -1.81719107302044 ExAC_dupZ : 0.910063942862999 ExAC_synZ : 0.838778443740044 ExAC_misZ : 0.711413277389895 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84969 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.12 Location2 : CDS Tx : XM_047440563 Tx_version : 1 Tx_start : 43914851 Tx_end : 44066857 Exon_count : 8 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 27589 Nearest_SS_type : 3' Intersect_start : 43945277 Intersect_end : 43945777 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
TOX2Gene_name : TOX2; LOEUF_bin : 3 GnomAD_pLI : 3.1987e-02 ExAC_pLI : 6.7408e-01 HI : . TS : . DDD_HI_percent : 37.74 ExAC_cnvZ : -0.388796873769303 ExAC_delZ : -1.81719107302044 ExAC_dupZ : 0.910063942862999 ExAC_synZ : 0.838778443740044 ExAC_misZ : 0.711413277389895 Closest_left : LINC01728 Closest_right : JPH2 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118 po_P_loss_percent : 0.00; 0.00; 0.00; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43933531-43933866 Repeat_type_left : LTR16A1 Gap_left : . GC_content_left : 0.630 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:43934206-43934302; 20:43934308-43934515 Repeat_type_right : L2b; MIRb Gap_right : . GC_content_right : 0.490 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
TOX2Gene_name : TOX2; LOEUF_bin : 3 GnomAD_pLI : 3.1987e-02 ExAC_pLI : 6.7408e-01 HI : . TS : . DDD_HI_percent : 37.74 ACMG : . ExAC_cnvZ : -0.388796873769303 ExAC_delZ : -1.81719107302044 ExAC_dupZ : 0.910063942862999 ExAC_synZ : 0.838778443740044 ExAC_misZ : 0.711413277389895 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84969 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.12 Location2 : CDS Tx : XM_047440563 Tx_version : 1 Tx_start : 43914851 Tx_end : 44066857 Exon_count : 8 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 18908 Nearest_SS_type : 5' Intersect_start : 43933898 Intersect_end : 43934398 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
MYBL2Gene_name : MYBL2; LOEUF_bin : 2 GnomAD_pLI : 1.2226e-01 ExAC_pLI : 9.9211e-01 HI : . TS : . DDD_HI_percent : 34.94 ExAC_cnvZ : -1.26097421273629 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.714455957882287 ExAC_synZ : 0.0591979712898836 ExAC_misZ : 1.86795081929307 Closest_left : LOC124904906 Closest_right : GTSF1L |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118 po_P_loss_percent : 0.00; 0.00; 0.00; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.530 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
MYBL2Gene_name : MYBL2; LOEUF_bin : 2 GnomAD_pLI : 1.2226e-01 ExAC_pLI : 9.9211e-01 HI : . TS : . DDD_HI_percent : 34.94 ACMG : . ExAC_cnvZ : -1.26097421273629 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.714455957882287 ExAC_synZ : 0.0591979712898836 ExAC_misZ : 1.86795081929307 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4605 |
intron2-intron3Location : intron2-intron3 CytoBand : q13.12 Location2 : CDS Tx : NM_002466 Tx_version : 4 Tx_start : 43667113 Tx_end : 43716482 Exon_count : 14 Overlapped_tx_length : 500 Overlapped_CDS_length : 72 Overlapped_CDS_percent : 3 Frameshift : no Dist_nearest_SS : 120 Nearest_SS_type : 5' Intersect_start : 43681475 Intersect_end : 43681975 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 625 Gene_count : 1 |
fullAnnotation_mode : full |
L3MBTL1Gene_name : L3MBTL1; LOEUF_bin : 4 GnomAD_pLI : 1.5474e-12 ExAC_pLI : 2.0785e-07 HI : . TS : . DDD_HI_percent : 47.47 ExAC_cnvZ : -0.556944364251767 ExAC_delZ : -2.32433485397934 ExAC_dupZ : 1.17304268593515 ExAC_synZ : 0.227950296718026 ExAC_misZ : 0.211585391689383 Closest_left : SRSF6 Closest_right : SGK2 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.00; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43532191-43532283 Repeat_type_left : MIR Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.455 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 625 |
splitAnnotation_mode : split |
L3MBTL1Gene_name : L3MBTL1; LOEUF_bin : 4 GnomAD_pLI : 1.5474e-12 ExAC_pLI : 2.0785e-07 HI : 0 TS : 0 DDD_HI_percent : 47.47 ACMG : . ExAC_cnvZ : -0.556944364251767 ExAC_delZ : -2.32433485397934 ExAC_dupZ : 1.17304268593515 ExAC_synZ : 0.227950296718026 ExAC_misZ : 0.211585391689383 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26013 |
intron11-intron12Location : intron11-intron12 CytoBand : q13.12 Location2 : CDS Tx : NM_001377303 Tx_version : 1 Tx_start : 43507696 Tx_end : 43541895 Exon_count : 22 Overlapped_tx_length : 625 Overlapped_CDS_length : 152 Overlapped_CDS_percent : 5 Frameshift : yes Dist_nearest_SS : 83 Nearest_SS_type : 5' Intersect_start : 43532382 Intersect_end : 43533007 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 Closest_left : PTPRT-AS1 Closest_right : PTPRT-DT |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:42969610-43117825; chr20:42998783-43097209 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:42998783-43097209 dbVar po_B_loss_someG_coord : chr20:42969610-43117825 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43030884-43031329 Repeat_type_left : LTR16 Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:43031368-43031548 Repeat_type_right : MLT1A1 Gap_right : . GC_content_right : 0.435 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ACMG : . ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11122 |
intron1-intron1Location : intron1-intron1 CytoBand : q12 Location2 : CDS Tx : XM_047439848 Tx_version : 1 Tx_start : 42031889 Tx_end : 43189906 Exon_count : 32 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 145010 Nearest_SS_type : 3' Intersect_start : 43030942 Intersect_end : 43031442 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:42969610-43117825; chr20:42998783-43097209 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1815 Gene_count : 1 |
fullAnnotation_mode : full |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 Closest_left : PTPRT-AS1 Closest_right : PTPRT-DT |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.01; 0.01; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:42969610-43117825; chr20:42998783-43097209 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:42998783-43097209 dbVar po_B_loss_someG_coord : chr20:42969610-43117825 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.405 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:43031368-43031548 Repeat_type_right : MLT1A1 Gap_right : . GC_content_right : 0.435 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1815 |
splitAnnotation_mode : split |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ACMG : . ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11122 |
intron1-intron1Location : intron1-intron1 CytoBand : q12 Location2 : CDS Tx : XM_047439848 Tx_version : 1 Tx_start : 42031889 Tx_end : 43189906 Exon_count : 32 Overlapped_tx_length : 1815 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 143695 Nearest_SS_type : 3' Intersect_start : 43029627 Intersect_end : 43031442 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:42969610-43117825; chr20:42998783-43097209 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 291 Gene_count : 1 |
fullAnnotation_mode : full |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 Closest_left : LOC101927159 Closest_right : LOC105372623 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:42765397-42791321 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:42765397-42791321 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:42788941-42789023; 20:42789036-42789382 Repeat_type_left : Charlie5; Charlie5 Gap_left : . GC_content_left : 0.330 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:42789036-42789382 Repeat_type_right : Charlie5 Gap_right : . GC_content_right : 0.275 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 291 |
splitAnnotation_mode : split |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ACMG : . ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11122 |
intron3-intron3Location : intron3-intron3 CytoBand : q12 Location2 : CDS Tx : XM_047439848 Tx_version : 1 Tx_start : 42031889 Tx_end : 43189906 Exon_count : 32 Overlapped_tx_length : 291 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1897 Nearest_SS_type : 5' Intersect_start : 42789006 Intersect_end : 42789297 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:42765397-42791321 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 791 Gene_count : 1 |
fullAnnotation_mode : full |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 Closest_left : LOC101927159 Closest_right : LOC105372623 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.01; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:42765397-42791321 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:42765397-42791321 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:42789036-42789382 Repeat_type_right : Charlie5 Gap_right : . GC_content_right : 0.275 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 791 |
splitAnnotation_mode : split |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ACMG : . ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11122 |
intron3-intron3Location : intron3-intron3 CytoBand : q12 Location2 : CDS Tx : XM_047439848 Tx_version : 1 Tx_start : 42031889 Tx_end : 43189906 Exon_count : 32 Overlapped_tx_length : 791 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1897 Nearest_SS_type : 5' Intersect_start : 42788506 Intersect_end : 42789297 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:42765397-42791321 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 1 |
fullAnnotation_mode : full |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 Closest_left : LOC105372622 Closest_right : LOC105372624 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv15160825 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:42303584-42488707 po_P_loss_percent : 0.01; 0.01; 0.01; 0.54 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:42354435-42354486 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.460 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.510 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ACMG : . ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11122 |
intron9-intron9Location : intron9-intron9 CytoBand : q12 Location2 : CDS Tx : XM_047439848 Tx_version : 1 Tx_start : 42031889 Tx_end : 43189906 Exon_count : 32 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2268 Nearest_SS_type : 3' Intersect_start : 42354553 Intersect_end : 42355553 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 Closest_left : LOC105372622 Closest_right : LOC105372624 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:42275486-42276248 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.430 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ACMG : . ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11122 |
intron13-intron13Location : intron13-intron13 CytoBand : q12 Location2 : CDS Tx : XM_047439848 Tx_version : 1 Tx_start : 42031889 Tx_end : 43189906 Exon_count : 32 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6664 Nearest_SS_type : 5' Intersect_start : 42275324 Intersect_end : 42275824 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 9567 Gene_count : 1 |
fullAnnotation_mode : full |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 Closest_left : LOC105372622 Closest_right : LOC105372624 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv15160824 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:42232175-42274201 po_P_loss_percent : 0.06; 0.08; 0.08; 1.13 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:42222584-42223124 Repeat_type_left : MER21A Gap_left : . GC_content_left : 0.430 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.550 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 9567 |
splitAnnotation_mode : split |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ACMG : . ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11122 |
intron15-intron15Location : intron15-intron15 CytoBand : q12 Location2 : CDS Tx : XM_047439848 Tx_version : 1 Tx_start : 42031889 Tx_end : 43189906 Exon_count : 32 Overlapped_tx_length : 9567 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3580 Nearest_SS_type : 5' Intersect_start : 42223081 Intersect_end : 42232648 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 357 Gene_count : 1 |
fullAnnotation_mode : full |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 Closest_left : LOC105372622 Closest_right : LOC105372624 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:42165274-42165341 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.430 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 357 |
splitAnnotation_mode : split |
PTPRTGene_name : PTPRT; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 2.38 ACMG : . ExAC_cnvZ : -0.952055289550214 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.35899486679697 ExAC_synZ : -0.236212300349422 ExAC_misZ : 3.47960742175633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11122 |
intron16-intron16Location : intron16-intron16 CytoBand : q12 Location2 : CDS Tx : XM_047439848 Tx_version : 1 Tx_start : 42031889 Tx_end : 43189906 Exon_count : 32 Overlapped_tx_length : 357 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3452 Nearest_SS_type : 3' Intersect_start : 42164991 Intersect_end : 42165348 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:41306275-41306472 Repeat_type_left : MIRc Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.385 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
ZHX3Gene_name : ZHX3; LOEUF_bin : 2 GnomAD_pLI : 5.0815e-02 ExAC_pLI : 3.5442e-01 HI : . TS : . DDD_HI_percent : 55.23 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.621284009453946 ExAC_misZ : 0.818886261199518 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23051 |
intron1-intron1Location : intron1-intron1 CytoBand : q12 Location2 : 5'UTR Tx : NM_001384315 Tx_version : 1 Tx_start : 41178454 Tx_end : 41317731 Exon_count : 5 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 10107 Nearest_SS_type : 5' Intersect_start : 41306254 Intersect_end : 41306754 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 635 Gene_count : 1 |
fullAnnotation_mode : full |
LOC102724950Gene_name : LOC102724950; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC01734 Closest_right : LOC105372614 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.00; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:39657732-39657761 Repeat_type_left : (TAA)n Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:39658156-39658322 Repeat_type_right : L1ME4a Gap_right : . GC_content_right : 0.275 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 635 |
splitAnnotation_mode : split |
LOC102724950Gene_name : LOC102724950; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
exon1-intron2Location : exon1-intron2 CytoBand : q12 Location2 : UTR Tx : XR_001754588 Tx_version : 2 Tx_start : 39655322 Tx_end : 39658440 Exon_count : 4 Overlapped_tx_length : 635 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5 Nearest_SS_type : 5' Intersect_start : 39657710 Intersect_end : 39658345 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2378 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.02; 0.02; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:37193633-37194255 Repeat_type_left : L2b Gap_left : . GC_content_left : 0.460 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:37196063-37196235 Repeat_type_right : AluSz Gap_right : . GC_content_right : 0.590 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2378 |
splitAnnotation_mode : split |
RPN2Gene_name : RPN2; LOEUF_bin : 2 GnomAD_pLI : 1.1487e-01 ExAC_pLI : 3.1677e-02 HI : . TS : . DDD_HI_percent : 29.64 ACMG : . ExAC_cnvZ : -0.908158772503518 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.33379338516744 ExAC_synZ : 0.133192379353929 ExAC_misZ : 0.149271948501769 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6185 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.23 Location2 : CDS Tx : NM_001135771 Tx_version : 3 Tx_start : 37179329 Tx_end : 37241619 Exon_count : 17 Overlapped_tx_length : 2378 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2924 Nearest_SS_type : 3' Intersect_start : 37193747 Intersect_end : 37196125 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.00; 0.01; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35828872-35829204 Repeat_type_right : MLT1F Gap_right : . GC_content_right : 0.535 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.23 Location2 : CDS Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 13474 Nearest_SS_type : 3' Intersect_start : 35828598 Intersect_end : 35829098 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 9729 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.06; 0.29; 0.08 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35787701-35788494 dbVar; chr20:35791156-35799958 dbVar po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35786989-35787158 Repeat_type_left : AluJr Gap_left : . GC_content_left : 0.470 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.395 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 9729 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 9729 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4718 Nearest_SS_type : 3' Intersect_start : 35787043 Intersect_end : 35796772 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 19432 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22-q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.13; 0.57; 0.16 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35787701-35788494 dbVar; chr20:35791156-35799958 dbVar po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35782912-35783228 Repeat_type_left : AluJr Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35802656-35802959 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.510 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 19432 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
intron1-intron2Location : intron1-intron2 CytoBand : q11.22-q11.23 Location2 : 5'UTR-CDS Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 19432 Overlapped_CDS_length : 83 Overlapped_CDS_percent : 2 Frameshift : yes Dist_nearest_SS : 1041 Nearest_SS_type : 5' Intersect_start : 35783214 Intersect_end : 35802646 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 13558 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.09; 0.40; 0.11 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35787701-35788494 dbVar; chr20:35791156-35799958 dbVar po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35782912-35783228 Repeat_type_left : AluJr Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.395 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 13558 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 13558 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4718 Nearest_SS_type : 3' Intersect_start : 35783214 Intersect_end : 35796772 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5534 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.04; 0.16; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35787701-35788494 dbVar; po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35782912-35783228 Repeat_type_left : AluJr Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35788587-35788874 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.520 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 5534 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 5534 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 11135 Nearest_SS_type : 5' Intersect_start : 35783214 Intersect_end : 35788748 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.00; 0.01; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35782912-35783228 Repeat_type_left : AluJr Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35783419-35783699; 20:35783700-35783994 Repeat_type_right : AluJo; AluSp Gap_right : . GC_content_right : 0.555 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 11135 Nearest_SS_type : 5' Intersect_start : 35783214 Intersect_end : 35783714 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 12823 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.08; 0.38; 0.10 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35787701-35788494 dbVar; po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35775831-35776107 Repeat_type_left : AluJr Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35788587-35788874 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.520 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 12823 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 12823 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3846 Nearest_SS_type : 5' Intersect_start : 35775925 Intersect_end : 35788748 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 7789 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.05; 0.23; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35775831-35776107 Repeat_type_left : AluJr Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35783419-35783699; 20:35783700-35783994 Repeat_type_right : AluJo; AluSp Gap_right : . GC_content_right : 0.555 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 7789 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 7789 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3846 Nearest_SS_type : 5' Intersect_start : 35775925 Intersect_end : 35783714 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 30811 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.20; 0.91; 0.25 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35787701-35788494 dbVar; chr20:35791156-35799958 dbVar po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35765777-35765910; 20:35766045-35766196 Repeat_type_left : FLAM_C; L2c Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.395 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 30811 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 24758 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4718 Nearest_SS_type : 3' Intersect_start : 35772014 Intersect_end : 35796772 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 22787 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.15; 0.67; 0.18 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35787701-35788494 dbVar; po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35765777-35765910; 20:35766045-35766196 Repeat_type_left : FLAM_C; L2c Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35788587-35788874 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.520 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 22787 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 16734 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 12742 Nearest_SS_type : 3' Intersect_start : 35772014 Intersect_end : 35788748 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 31776 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818 po_P_loss_percent : 0.21; 0.94; 0.26 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar po_B_loss_someG_coord : chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35756688-35756965; 20:35756969-35757095 Repeat_type_left : AluSg; FLAM_C Gap_left : . GC_content_left : 0.540 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35788587-35788874 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.520 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 31776 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 16734 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 12742 Nearest_SS_type : 3' Intersect_start : 35772014 Intersect_end : 35788748 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 21070 Gene_count : 1 |
fullAnnotation_mode : full |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 Closest_left : LOC124904980 Closest_right : PHF20 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.14; 0.62; 0.17; 1.76 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35736655-35736950 Repeat_type_left : AluSc Gap_left : . GC_content_left : 0.500 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35757910-35757998 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.335 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 21070 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
txStart-intron3Location : txStart-intron3 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_001242599 Tx_version : 2 Tx_start : 35701346 Tx_end : 35742260 Exon_count : 16 Overlapped_tx_length : 5510 Overlapped_CDS_length : 101 Overlapped_CDS_percent : 6 Frameshift : yes Dist_nearest_SS : 2217 Nearest_SS_type : 5' Intersect_start : 35736750 Intersect_end : 35742260 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 12911 Gene_count : 1 |
fullAnnotation_mode : full |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 Closest_left : LOC124904980 Closest_right : PHF20 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.08; 0.38; 0.10; 1.76 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35736655-35736950 Repeat_type_left : AluSc Gap_left : . GC_content_left : 0.500 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35749363-35749642; 20:35749737-35750040 Repeat_type_right : AluJr; AluSq Gap_right : . GC_content_right : 0.320 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 12911 Gene_count : 1 |
fullAnnotation_mode : full |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 Closest_left : LOC124904980 Closest_right : PHF20 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.08; 0.38; 0.10; 1.76 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35736655-35736950 Repeat_type_left : AluSc Gap_left : . GC_content_left : 0.500 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35749363-35749642; 20:35749737-35750040 Repeat_type_right : AluJr; AluSq Gap_right : . GC_content_right : 0.320 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 12911 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
txStart-intron3Location : txStart-intron3 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_001242599 Tx_version : 2 Tx_start : 35701346 Tx_end : 35742260 Exon_count : 16 Overlapped_tx_length : 5510 Overlapped_CDS_length : 101 Overlapped_CDS_percent : 6 Frameshift : yes Dist_nearest_SS : 2217 Nearest_SS_type : 5' Intersect_start : 35736750 Intersect_end : 35742260 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 12911 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
txStart-intron3Location : txStart-intron3 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_001242599 Tx_version : 2 Tx_start : 35701346 Tx_end : 35742260 Exon_count : 16 Overlapped_tx_length : 5510 Overlapped_CDS_length : 101 Overlapped_CDS_percent : 6 Frameshift : yes Dist_nearest_SS : 2217 Nearest_SS_type : 5' Intersect_start : 35736750 Intersect_end : 35742260 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 27005 Gene_count : 1 |
fullAnnotation_mode : full |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 Closest_left : LOC124904980 Closest_right : PHF20 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.17; 0.80; 0.22; 3.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35757910-35757998 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.335 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 27005 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
txStart-intron4Location : txStart-intron4 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_001242599 Tx_version : 2 Tx_start : 35701346 Tx_end : 35742260 Exon_count : 16 Overlapped_tx_length : 11445 Overlapped_CDS_length : 296 Overlapped_CDS_percent : 19 Frameshift : yes Dist_nearest_SS : 1125 Nearest_SS_type : 5' Intersect_start : 35730815 Intersect_end : 35742260 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 18846 Gene_count : 1 |
fullAnnotation_mode : full |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 Closest_left : LOC124904980 Closest_right : PHF20 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.12; 0.56; 0.15; 3.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35749363-35749642; 20:35749737-35750040 Repeat_type_right : AluJr; AluSq Gap_right : . GC_content_right : 0.320 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 18846 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
txStart-intron4Location : txStart-intron4 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_001242599 Tx_version : 2 Tx_start : 35701346 Tx_end : 35742260 Exon_count : 16 Overlapped_tx_length : 11445 Overlapped_CDS_length : 296 Overlapped_CDS_percent : 19 Frameshift : yes Dist_nearest_SS : 1125 Nearest_SS_type : 5' Intersect_start : 35730815 Intersect_end : 35742260 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8092 Gene_count : 1 |
fullAnnotation_mode : full |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 Closest_left : LOC124904980 Closest_right : PHF20 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.05; 0.24; 0.07; 1.76 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.320 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.415 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 8092 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
intron3-intron4Location : intron3-intron4 CytoBand : q11.22 Location2 : CDS Tx : NM_001242599 Tx_version : 2 Tx_start : 35701346 Tx_end : 35742260 Exon_count : 16 Overlapped_tx_length : 8092 Overlapped_CDS_length : 195 Overlapped_CDS_percent : 12 Frameshift : no Dist_nearest_SS : 60 Nearest_SS_type : 5' Intersect_start : 35730815 Intersect_end : 35738907 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
UQCC1Gene_name : UQCC1; LOEUF_bin : 5 GnomAD_pLI : 3.1978e-08 ExAC_pLI : 4.8544e-03 HI : . TS : . DDD_HI_percent : 27.71 ExAC_cnvZ : -1.02249630316542 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21814111501635 ExAC_synZ : 1.05715767023794 ExAC_misZ : 0.903797652213651 Closest_left : FAM83C Closest_right : GDF5-AS1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15122688; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35051856-35438457; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.00; 0.02; 0.01; 0.13; 0.00; 0.11 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35386995-35387312 Repeat_type_right : AluSz6 Gap_right : . GC_content_right : 0.470 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
UQCC1Gene_name : UQCC1; LOEUF_bin : 5 GnomAD_pLI : 3.1978e-08 ExAC_pLI : 4.8544e-03 HI : . TS : . DDD_HI_percent : 27.71 ACMG : . ExAC_cnvZ : -1.02249630316542 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21814111501635 ExAC_synZ : 1.05715767023794 ExAC_misZ : 0.903797652213651 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55245 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.22 Location2 : 5'UTR Tx : XM_011528880 Tx_version : 3 Tx_start : 35302577 Tx_end : 35410279 Exon_count : 10 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2629 Nearest_SS_type : 3' Intersect_start : 35386762 Intersect_end : 35387262 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 7279 Gene_count : 1 |
fullAnnotation_mode : full |
UQCC1Gene_name : UQCC1; LOEUF_bin : 5 GnomAD_pLI : 3.1978e-08 ExAC_pLI : 4.8544e-03 HI : . TS : . DDD_HI_percent : 27.71 ExAC_cnvZ : -1.02249630316542 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21814111501635 ExAC_synZ : 1.05715767023794 ExAC_misZ : 0.903797652213651 Closest_left : FAM83C Closest_right : GDF5-AS1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15122688; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35051856-35438457; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.05; 0.24; 0.21; 1.88; 0.06; 1.59 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35383594-35383863; 20:35383873-35384013 Repeat_type_left : AluJr4; MIRc Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35390922-35391221 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.480 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 7279 |
splitAnnotation_mode : split |
UQCC1Gene_name : UQCC1; LOEUF_bin : 5 GnomAD_pLI : 3.1978e-08 ExAC_pLI : 4.8544e-03 HI : . TS : . DDD_HI_percent : 27.71 ACMG : . ExAC_cnvZ : -1.02249630316542 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21814111501635 ExAC_synZ : 1.05715767023794 ExAC_misZ : 0.903797652213651 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55245 |
intron2-intron3Location : intron2-intron3 CytoBand : q11.22 Location2 : CDS Tx : NM_018244 Tx_version : 5 Tx_start : 35302577 Tx_end : 35411973 Exon_count : 10 Overlapped_tx_length : 7279 Overlapped_CDS_length : 96 Overlapped_CDS_percent : 10 Frameshift : no Dist_nearest_SS : 204 Nearest_SS_type : 5' Intersect_start : 35383833 Intersect_end : 35391112 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 106929 Gene_count : 1 |
fullAnnotation_mode : full |
UQCC1Gene_name : UQCC1; LOEUF_bin : 5 GnomAD_pLI : 3.1978e-08 ExAC_pLI : 4.8544e-03 HI : . TS : . DDD_HI_percent : 27.71 ExAC_cnvZ : -1.02249630316542 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21814111501635 ExAC_synZ : 1.05715767023794 ExAC_misZ : 0.903797652213651 Closest_left : FAM83C Closest_right : GDF5-AS1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=[...]RE_gene : GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15122688; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35051856-35438457; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.69; 3.45; 3.15; 27.66; 0.86; 23.29 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35322277-35322369 dbVar; chr20:35357646-35358308 dbVar; chr20:35393752-35393806 dbVar po_B_loss_someG_coord : chr20:35309417-35315846 dbVar; chr20:35343547-35344221 dbVar; chr20:35393746-35393807 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35293195-35293249; 20:35293269-35293578 Repeat_type_left : MER5A; AluJr Gap_left : . GC_content_left : 0.560 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35399926-35400220 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.580 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 106929 |
splitAnnotation_mode : split |
UQCC1Gene_name : UQCC1; LOEUF_bin : 5 GnomAD_pLI : 3.1978e-08 ExAC_pLI : 4.8544e-03 HI : . TS : . DDD_HI_percent : 27.71 ACMG : . ExAC_cnvZ : -1.02249630316542 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21814111501635 ExAC_synZ : 1.05715767023794 ExAC_misZ : 0.903797652213651 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55245 |
intron1-txEndLocation : intron1-txEnd CytoBand : q11.22 Location2 : CDS-3'UTR Tx : XM_011528877 Tx_version : 2 Tx_start : 35302577 Tx_end : 35411973 Exon_count : 11 Overlapped_tx_length : 97549 Overlapped_CDS_length : 918 Overlapped_CDS_percent : 97 Frameshift : no Dist_nearest_SS : 5930 Nearest_SS_type : 3' Intersect_start : 35302577 Intersect_end : 35400126 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 197 Gene_count : 1 |
fullAnnotation_mode : full |
TRPC4APGene_name : TRPC4AP; LOEUF_bin : 1 GnomAD_pLI : 5.5209e-01 ExAC_pLI : 9.9954e-01 HI : . TS : . DDD_HI_percent : 28.34 ExAC_cnvZ : -1.03997955418994 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.531012113367853 ExAC_synZ : 0.104534239779587 ExAC_misZ : 1.3994378536155 Closest_left : MIR499B Closest_right : EDEM2 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=[...]RE_gene : GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15122688 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35051856-35438457 po_P_loss_percent : 0.00; 0.01; 0.01; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35090812-35090978; 20:35091051-35091268 Repeat_type_left : MIRb; AluSz6 Gap_left : . GC_content_left : 0.480 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35091051-35091268 Repeat_type_right : AluSz6 Gap_right : . GC_content_right : 0.500 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 197 |
splitAnnotation_mode : split |
TRPC4APGene_name : TRPC4AP; LOEUF_bin : 1 GnomAD_pLI : 5.5209e-01 ExAC_pLI : 9.9954e-01 HI : . TS : . DDD_HI_percent : 28.34 ACMG : . ExAC_cnvZ : -1.03997955418994 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.531012113367853 ExAC_synZ : 0.104534239779587 ExAC_misZ : 1.3994378536155 GenCC_disease : hypothyroidism GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 26133 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : CDS Tx : NM_015638 Tx_version : 3 Tx_start : 35002403 Tx_end : 35092807 Exon_count : 19 Overlapped_tx_length : 197 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1361 Nearest_SS_type : 5' Intersect_start : 35091055 Intersect_end : 35091252 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 618 Gene_count : 1 |
fullAnnotation_mode : full |
NECAB3Gene_name : NECAB3; LOEUF_bin : 4 GnomAD_pLI : 2.7510e-05 ExAC_pLI : 7.9763e-01 HI : . TS : . DDD_HI_percent : 61.33 ExAC_cnvZ : -1.03962796040024 ExAC_delZ : -2.18944272148002 ExAC_dupZ : -0.0982240144466943 ExAC_synZ : -0.000213341846980699 ExAC_misZ : 0.830805832020282 Closest_left : CBFA2T2 Closest_right : C20orf144 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.00; 0.02; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.610 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33657493-33657591 Repeat_type_right : MIR3 Gap_right : . GC_content_right : 0.670 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 618 |
splitAnnotation_mode : split |
NECAB3Gene_name : NECAB3; LOEUF_bin : 4 GnomAD_pLI : 2.7510e-05 ExAC_pLI : 7.9763e-01 HI : . TS : . DDD_HI_percent : 61.33 ACMG : . ExAC_cnvZ : -1.03962796040024 ExAC_delZ : -2.18944272148002 ExAC_dupZ : -0.0982240144466943 ExAC_synZ : -0.000213341846980699 ExAC_misZ : 0.830805832020282 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 63941 |
exon9-txEndLocation : exon9-txEnd CytoBand : q11.22 Location2 : 3'UTR Tx : XM_017028016 Tx_version : 2 Tx_start : 33657086 Tx_end : 33662181 Exon_count : 9 Overlapped_tx_length : 379 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 392 Nearest_SS_type : 3' Intersect_start : 33657086 Intersect_end : 33657465 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6536 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.04; 0.21; 0.19 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:33586676-33597548 dbVar; po_B_loss_someG_coord : chr20:33586659-33597547 dbVar; chr20:33590169-33590317 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33583911-33584247 Repeat_type_left : AluSx1 Gap_left : . GC_content_left : 0.335 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.395 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6536 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : CDS Tx : NM_001032999 Tx_version : 3 Tx_start : 33490095 Tx_end : 33650030 Exon_count : 11 Overlapped_tx_length : 6536 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 16522 Nearest_SS_type : 3' Intersect_start : 33583897 Intersect_end : 33590433 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11716 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.08; 0.38; 0.35 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:33586676-33597548 dbVar; po_B_loss_someG_coord : chr20:33586659-33597547 dbVar; chr20:33590169-33590317 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.395 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11716 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : CDS Tx : NM_001032999 Tx_version : 3 Tx_start : 33490095 Tx_end : 33650030 Exon_count : 11 Overlapped_tx_length : 11716 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 16522 Nearest_SS_type : 3' Intersect_start : 33578717 Intersect_end : 33590433 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2545 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.02; 0.08; 0.08 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.360 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33577731-33577791 Repeat_type_right : MIRc Gap_right : . GC_content_right : 0.340 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2545 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : CDS Tx : NM_001032999 Tx_version : 3 Tx_start : 33490095 Tx_end : 33650030 Exon_count : 11 Overlapped_tx_length : 2545 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 29186 Nearest_SS_type : 3' Intersect_start : 33575224 Intersect_end : 33577769 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4141 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.03; 0.13; 0.12 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33569900-33570010; 20:33570011-33570302 Repeat_type_left : FRAM; AluSx Gap_left : . GC_content_left : 0.545 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33573795-33574083 Repeat_type_right : AluJb Gap_right : . GC_content_right : 0.430 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4141 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : CDS Tx : NM_001032999 Tx_version : 3 Tx_start : 33490095 Tx_end : 33650030 Exon_count : 11 Overlapped_tx_length : 4141 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 32804 Nearest_SS_type : 3' Intersect_start : 33570010 Intersect_end : 33574151 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11051 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.07; 0.36; 0.33 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.360 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.355 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11051 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron2Location : intron1-intron2 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_005093 Tx_version : 4 Tx_start : 33562341 Tx_end : 33650030 Exon_count : 12 Overlapped_tx_length : 11051 Overlapped_CDS_length : 61 Overlapped_CDS_percent : 3 Frameshift : yes Dist_nearest_SS : 3731 Nearest_SS_type : 5' Intersect_start : 33566941 Intersect_end : 33577992 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 10828 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.07; 0.35; 0.32 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.360 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33577731-33577791 Repeat_type_right : MIRc Gap_right : . GC_content_right : 0.340 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 10828 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron2Location : intron1-intron2 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_005093 Tx_version : 4 Tx_start : 33562341 Tx_end : 33650030 Exon_count : 12 Overlapped_tx_length : 10828 Overlapped_CDS_length : 61 Overlapped_CDS_percent : 3 Frameshift : yes Dist_nearest_SS : 3508 Nearest_SS_type : 5' Intersect_start : 33566941 Intersect_end : 33577769 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8283 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.05; 0.27; 0.24 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.360 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.360 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 8283 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron2Location : intron1-intron2 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_005093 Tx_version : 4 Tx_start : 33562341 Tx_end : 33650030 Exon_count : 12 Overlapped_tx_length : 8283 Overlapped_CDS_length : 61 Overlapped_CDS_percent : 3 Frameshift : yes Dist_nearest_SS : 963 Nearest_SS_type : 5' Intersect_start : 33566941 Intersect_end : 33575224 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6241 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.04; 0.20; 0.18 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.360 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33573081-33573420 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.330 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6241 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : CDS Tx : NM_001032999 Tx_version : 3 Tx_start : 33490095 Tx_end : 33650030 Exon_count : 11 Overlapped_tx_length : 6241 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 33773 Nearest_SS_type : 3' Intersect_start : 33566941 Intersect_end : 33573182 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6113 Gene_count : 1 |
fullAnnotation_mode : full |
CDK5RAP1Gene_name : CDK5RAP1; LOEUF_bin : 7 GnomAD_pLI : 7.7821e-19 ExAC_pLI : 1.0782e-14 HI : . TS : . DDD_HI_percent : 44.19 ExAC_cnvZ : -1.60755026988647 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.622675214852052 ExAC_synZ : 0.0300239017512713 ExAC_misZ : 0.685508174777312 Closest_left : LOC105372594 Closest_right : LOC124904889 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288 po_P_loss_percent : 0.04; 0.20 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33364189-33364486 Repeat_type_left : AluSg7 Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.530 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6113 |
splitAnnotation_mode : split |
CDK5RAP1Gene_name : CDK5RAP1; LOEUF_bin : 7 GnomAD_pLI : 7.7821e-19 ExAC_pLI : 1.0782e-14 HI : . TS : . DDD_HI_percent : 44.19 ACMG : . ExAC_cnvZ : -1.60755026988647 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.622675214852052 ExAC_synZ : 0.0300239017512713 ExAC_misZ : 0.685508174777312 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51654 |
intron7-intron8Location : intron7-intron8 CytoBand : q11.21 Location2 : CDS Tx : XM_024451895 Tx_version : 2 Tx_start : 33358838 Tx_end : 33392159 Exon_count : 10 Overlapped_tx_length : 6113 Overlapped_CDS_length : 150 Overlapped_CDS_percent : 12 Frameshift : no Dist_nearest_SS : 41 Nearest_SS_type : 5' Intersect_start : 33364344 Intersect_end : 33370457 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 595 Gene_count : 1 |
fullAnnotation_mode : full |
BPIFB3Gene_name : BPIFB3; LOEUF_bin : 7 GnomAD_pLI : 3.6763e-13 ExAC_pLI : 1.2701e-05 HI : . TS : . DDD_HI_percent : 72.06 ExAC_cnvZ : -1.5926808300207 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.247525500012051 ExAC_synZ : 0.148474694246789 ExAC_misZ : -0.676082883446531 Closest_left : BPIFB6 Closest_right : BPIFB4 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288 po_P_loss_percent : 0.00; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.625 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33054316-33054667 Repeat_type_right : L2c Gap_right : . GC_content_right : 0.450 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 595 |
splitAnnotation_mode : split |
BPIFB3Gene_name : BPIFB3; LOEUF_bin : 7 GnomAD_pLI : 3.6763e-13 ExAC_pLI : 1.2701e-05 HI : . TS : . DDD_HI_percent : 72.06 ACMG : . ExAC_cnvZ : -1.5926808300207 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.247525500012051 ExAC_synZ : 0.148474694246789 ExAC_misZ : -0.676082883446531 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 359710 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.21 Location2 : 5'UTR Tx : NM_001376932 Tx_version : 3 Tx_start : 33053902 Tx_end : 33073847 Exon_count : 16 Overlapped_tx_length : 571 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 508 Nearest_SS_type : 5' Intersect_start : 33053902 Intersect_end : 33054473 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4091 Gene_count : 1 |
fullAnnotation_mode : full |
TPX2Gene_name : TPX2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9212e-01 HI : . TS : . DDD_HI_percent : 16.69 ExAC_cnvZ : -0.0146908567638964 ExAC_delZ : 0.761777252101235 ExAC_dupZ : -0.42739125676598 ExAC_synZ : -0.996576236619267 ExAC_misZ : -0.0932772109761528 Closest_left : ABALON Closest_right : MYLK2 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:31789078-31789351 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.400 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4091 |
splitAnnotation_mode : split |
TPX2Gene_name : TPX2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9212e-01 HI : . TS : . DDD_HI_percent : 16.69 ACMG : . ExAC_cnvZ : -0.0146908567638964 ExAC_delZ : 0.761777252101235 ExAC_dupZ : -0.42739125676598 ExAC_synZ : -0.996576236619267 ExAC_misZ : -0.0932772109761528 GenCC_disease : Tourette syndrome GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : . NCBI_gene_ID : 22974 |
intron12-intron13Location : intron12-intron13 CytoBand : q11.21 Location2 : CDS Tx : NM_012112 Tx_version : 5 Tx_start : 31739289 Tx_end : 31801800 Exon_count : 18 Overlapped_tx_length : 4091 Overlapped_CDS_length : 96 Overlapped_CDS_percent : 4 Frameshift : no Dist_nearest_SS : 347 Nearest_SS_type : 5' Intersect_start : 31789086 Intersect_end : 31793177 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6308 Gene_count : 1 |
fullAnnotation_mode : full |
TPX2Gene_name : TPX2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9212e-01 HI : . TS : . DDD_HI_percent : 16.69 ExAC_cnvZ : -0.0146908567638964 ExAC_delZ : 0.761777252101235 ExAC_dupZ : -0.42739125676598 ExAC_synZ : -0.996576236619267 ExAC_misZ : -0.0932772109761528 Closest_left : ABALON Closest_right : MYLK2 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.400 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6308 |
splitAnnotation_mode : split |
TPX2Gene_name : TPX2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9212e-01 HI : . TS : . DDD_HI_percent : 16.69 ACMG : . ExAC_cnvZ : -0.0146908567638964 ExAC_delZ : 0.761777252101235 ExAC_dupZ : -0.42739125676598 ExAC_synZ : -0.996576236619267 ExAC_misZ : -0.0932772109761528 GenCC_disease : Tourette syndrome GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : . NCBI_gene_ID : 22974 |
intron12-intron13Location : intron12-intron13 CytoBand : q11.21 Location2 : CDS Tx : NM_012112 Tx_version : 5 Tx_start : 31739289 Tx_end : 31801800 Exon_count : 18 Overlapped_tx_length : 6308 Overlapped_CDS_length : 96 Overlapped_CDS_percent : 4 Frameshift : no Dist_nearest_SS : 347 Nearest_SS_type : 5' Intersect_start : 31786869 Intersect_end : 31793177 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3848 Gene_count : 1 |
fullAnnotation_mode : full |
TPX2Gene_name : TPX2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9212e-01 HI : . TS : . DDD_HI_percent : 16.69 ExAC_cnvZ : -0.0146908567638964 ExAC_delZ : 0.761777252101235 ExAC_dupZ : -0.42739125676598 ExAC_synZ : -0.996576236619267 ExAC_misZ : -0.0932772109761528 Closest_left : ABALON Closest_right : MYLK2 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:31790241-31790654; 20:31790713-31791208 Repeat_type_right : MARNA; L2c Gap_right : . GC_content_right : 0.415 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3848 |
splitAnnotation_mode : split |
TPX2Gene_name : TPX2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9212e-01 HI : . TS : . DDD_HI_percent : 16.69 ACMG : . ExAC_cnvZ : -0.0146908567638964 ExAC_delZ : 0.761777252101235 ExAC_dupZ : -0.42739125676598 ExAC_synZ : -0.996576236619267 ExAC_misZ : -0.0932772109761528 GenCC_disease : Tourette syndrome GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : . NCBI_gene_ID : 22974 |
intron12-intron12Location : intron12-intron12 CytoBand : q11.21 Location2 : CDS Tx : NM_012112 Tx_version : 5 Tx_start : 31739289 Tx_end : 31801800 Exon_count : 18 Overlapped_tx_length : 3848 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2017 Nearest_SS_type : 3' Intersect_start : 31786869 Intersect_end : 31790717 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
TPX2Gene_name : TPX2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9212e-01 HI : . TS : . DDD_HI_percent : 16.69 ExAC_cnvZ : -0.0146908567638964 ExAC_delZ : 0.761777252101235 ExAC_dupZ : -0.42739125676598 ExAC_synZ : -0.996576236619267 ExAC_misZ : -0.0932772109761528 Closest_left : ABALON Closest_right : MYLK2 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:31755498-31755780 Repeat_type_left : AluSx1 Gap_left : . GC_content_left : 0.500 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:31756095-31756148; 20:31756152-31756177; 20:31756178-31756401 Repeat_type_right : L2c; (GATG)n; L2c Gap_right : . GC_content_right : 0.350 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
TPX2Gene_name : TPX2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9212e-01 HI : . TS : . DDD_HI_percent : 16.69 ACMG : . ExAC_cnvZ : -0.0146908567638964 ExAC_delZ : 0.761777252101235 ExAC_dupZ : -0.42739125676598 ExAC_synZ : -0.996576236619267 ExAC_misZ : -0.0932772109761528 GenCC_disease : Tourette syndrome GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : . NCBI_gene_ID : 22974 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.21 Location2 : 5'UTR Tx : NM_012112 Tx_version : 5 Tx_start : 31739289 Tx_end : 31801800 Exon_count : 18 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1193 Nearest_SS_type : 3' Intersect_start : 31755713 Intersect_end : 31756213 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2216 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105372582Gene_name : LOC105372582; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC107985400 Closest_right : FAM182B |
.Location : . CytoBand : p11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664 po_P_loss_coord : 20:18520274-25866684 po_P_loss_percent : 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 20:25752457-25756137; 20:25752457-25777418; 20:25752457-25797121; 20:25752457-25799194; 20:25752457-25845152; 20:25752460-25786934; 20:25752460-25786934; 20:25753506-25786367; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798 Repeat_coord_left : 20:25753594-25754668 Repeat_type_left : L1MB7 Gap_left : . GC_content_left : 0.305 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:25752457-25756137; 20:25752457-25777418; 20:25752457-25797121; 20:25752457-25799194; 20:25752457-25845152; 20:25752460-25786934; 20:25752460-25786934; 20:25753506-25786367; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798; 20:25756106-25768377 Repeat_coord_right : 20:25756087-25756394 Repeat_type_right : AluY Gap_right : . GC_content_right : 0.530 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2216 |
splitAnnotation_mode : split |
LOC105372582Gene_name : LOC105372582; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
exon2-txEndLocation : exon2-txEnd CytoBand : p11.1 Location2 : UTR Tx : NR_135006 Tx_version : 1 Tx_start : 25751207 Tx_end : 25756050 Exon_count : 2 Overlapped_tx_length : 2068 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1420 Nearest_SS_type : 3' Intersect_start : 25753982 Intersect_end : 25756050 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
ENTPD6Gene_name : ENTPD6; LOEUF_bin : 4 GnomAD_pLI : 1.1814e-06 ExAC_pLI : 4.9899e-05 HI : . TS : . DDD_HI_percent : 74.06 ExAC_cnvZ : -0.572086725988312 ExAC_delZ : 0.977902329665458 ExAC_dupZ : -1.13513219843915 ExAC_synZ : 0.688667078317056 ExAC_misZ : 0.505000665689916 Closest_left : LOC101926889 Closest_right : LOC105372579 |
.Location : . CytoBand : p11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664 po_P_loss_coord : 20:18520274-25866684 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:25198869-25199068 Repeat_type_left : L2 Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:25199487-25200499 Repeat_type_right : L1MB3 Gap_right : . GC_content_right : 0.425 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
ENTPD6Gene_name : ENTPD6; LOEUF_bin : 4 GnomAD_pLI : 1.1814e-06 ExAC_pLI : 4.9899e-05 HI : . TS : . DDD_HI_percent : 74.06 ACMG : . ExAC_cnvZ : -0.572086725988312 ExAC_delZ : 0.977902329665458 ExAC_dupZ : -1.13513219843915 ExAC_synZ : 0.688667078317056 ExAC_misZ : 0.505000665689916 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 955 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.21 Location2 : 5'UTR Tx : XM_047440599 Tx_version : 1 Tx_start : 25195711 Tx_end : 25224089 Exon_count : 13 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3067 Nearest_SS_type : 5' Intersect_start : 25198934 Intersect_end : 25199434 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2156 Gene_count : 1 |
fullAnnotation_mode : full |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 Closest_left : KIZ-AS1 Closest_right : NKX2-4 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.02; 0.06; 0.03; 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:21336178-21336476; 20:21336565-21337637 Repeat_type_left : AluSx1; L2a Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.285 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2156 |
splitAnnotation_mode : split |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ACMG : . ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22803 |
intron13-intron13Location : intron13-intron13 CytoBand : p11.22 Location2 : CDS Tx : NM_012255 Tx_version : 5 Tx_start : 21303330 Tx_end : 21389825 Exon_count : 30 Overlapped_tx_length : 2156 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 421 Nearest_SS_type : 3' Intersect_start : 21336466 Intersect_end : 21338622 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 Closest_left : KIZ-AS1 Closest_right : NKX2-4 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.00; 0.01; 0.01; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:21329857-21329898 Repeat_type_left : (GT)n Gap_left : . GC_content_left : 0.335 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:21330001-21330286; 20:21330287-21330305 Repeat_type_right : AluSx1; (TAA)n Gap_right : . GC_content_right : 0.450 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ACMG : . ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22803 |
intron4-intron4Location : intron4-intron4 CytoBand : p11.22 Location2 : CDS Tx : NM_012255 Tx_version : 5 Tx_start : 21303330 Tx_end : 21389825 Exon_count : 30 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 205 Nearest_SS_type : 3' Intersect_start : 21329775 Intersect_end : 21330275 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 14229 Gene_count : 1 |
fullAnnotation_mode : full |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 Closest_left : KIZ-AS1 Closest_right : NKX2-4 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.11; 0.39; 0.19; 0.49 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:21310728-21311050 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.555 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:21324814-21325149 Repeat_type_right : L1MB7 Gap_right : . GC_content_right : 0.320 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 14229 |
splitAnnotation_mode : split |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ACMG : . ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22803 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.22 Location2 : CDS Tx : NM_012255 Tx_version : 5 Tx_start : 21303330 Tx_end : 21389825 Exon_count : 30 Overlapped_tx_length : 14229 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1182 Nearest_SS_type : 3' Intersect_start : 21310867 Intersect_end : 21325096 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 9063 Gene_count : 1 |
fullAnnotation_mode : full |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 Closest_left : KIZ-AS1 Closest_right : NKX2-4 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.07; 0.25; 0.12; 0.31 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:21310728-21311050 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.555 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:21319787-21320203 Repeat_type_right : L1MB8 Gap_right : . GC_content_right : 0.300 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 9063 |
splitAnnotation_mode : split |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ACMG : . ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22803 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.22 Location2 : CDS Tx : NM_012255 Tx_version : 5 Tx_start : 21303330 Tx_end : 21389825 Exon_count : 30 Overlapped_tx_length : 9063 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6348 Nearest_SS_type : 3' Intersect_start : 21310867 Intersect_end : 21319930 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4206 Gene_count : 1 |
fullAnnotation_mode : full |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 Closest_left : KIZ-AS1 Closest_right : NKX2-4 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.03; 0.12; 0.06; 0.15 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:21310728-21311050 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.555 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:21314785-21315315 Repeat_type_right : MER70A Gap_right : . GC_content_right : 0.525 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4206 |
splitAnnotation_mode : split |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ACMG : . ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22803 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.22 Location2 : CDS Tx : NM_012255 Tx_version : 5 Tx_start : 21303330 Tx_end : 21389825 Exon_count : 30 Overlapped_tx_length : 4206 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7394 Nearest_SS_type : 5' Intersect_start : 21310867 Intersect_end : 21315073 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1471 Gene_count : 1 |
fullAnnotation_mode : full |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 Closest_left : KIZ-AS1 Closest_right : NKX2-4 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.01; 0.04; 0.02; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:21310728-21311050 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.555 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:21312115-21312393; 20:21312394-21312452 Repeat_type_right : AluYh3; L1ME1 Gap_right : . GC_content_right : 0.445 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1471 |
splitAnnotation_mode : split |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ACMG : . ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22803 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.22 Location2 : CDS Tx : NM_012255 Tx_version : 5 Tx_start : 21303330 Tx_end : 21389825 Exon_count : 30 Overlapped_tx_length : 1471 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7394 Nearest_SS_type : 5' Intersect_start : 21310867 Intersect_end : 21312338 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5783 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.04; 0.16; 0.08; 0.20 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:20612004-20621006 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20621471-20621521; 20:20621522-20621541 Repeat_type_right : (TTTCC)n; (TTTC)n Gap_right : . GC_content_right : 0.300 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 5783 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron10-intron13Location : intron10-intron13 CytoBand : p11.23 Location2 : CDS Tx : NM_020343 Tx_version : 4 Tx_start : 20389529 Tx_end : 20712644 Exon_count : 40 Overlapped_tx_length : 5783 Overlapped_CDS_length : 455 Overlapped_CDS_percent : 8 Frameshift : yes Dist_nearest_SS : 232 Nearest_SS_type : 5' Intersect_start : 20615810 Intersect_end : 20621593 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11838 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.09; 0.32; 0.16; 0.41 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:20612004-20621006 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.570 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20621471-20621521; 20:20621522-20621541 Repeat_type_right : (TTTCC)n; (TTTC)n Gap_right : . GC_content_right : 0.300 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11838 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron10-intron14Location : intron10-intron14 CytoBand : p11.23 Location2 : CDS Tx : NM_020343 Tx_version : 4 Tx_start : 20389529 Tx_end : 20712644 Exon_count : 40 Overlapped_tx_length : 11838 Overlapped_CDS_length : 567 Overlapped_CDS_percent : 10 Frameshift : no Dist_nearest_SS : 963 Nearest_SS_type : 3' Intersect_start : 20609755 Intersect_end : 20621593 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8500 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.06; 0.23; 0.12; 0.29 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:20612004-20621006 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.570 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20617958-20618157 Repeat_type_right : MER6B Gap_right : . GC_content_right : 0.470 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 8500 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron12-intron14Location : intron12-intron14 CytoBand : p11.23 Location2 : CDS Tx : NM_020343 Tx_version : 4 Tx_start : 20389529 Tx_end : 20712644 Exon_count : 40 Overlapped_tx_length : 8500 Overlapped_CDS_length : 261 Overlapped_CDS_percent : 4 Frameshift : no Dist_nearest_SS : 1021 Nearest_SS_type : 5' Intersect_start : 20609755 Intersect_end : 20618255 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 35950 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.27; 0.98; 0.49; 1.24 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:20496117-20496178 dbVar; chr20:20522296-20522407 dbVar; chr20:20496117-20496178 dbVar; chr20:20522296-20522407 dbVar po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec; 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20527416-20527770 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.530 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 35950 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.27; 0.98; 0.49; 1.24 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:20496117-20496178 dbVar; chr20:20522296-20522407 dbVar; chr20:20496117-20496178 dbVar; chr20:20522296-20522407 dbVar po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec; 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20527416-20527770 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.530 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 35950 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron13-intron22Location : intron13-intron22 CytoBand : p11.23 Location2 : CDS Tx : XM_047440324 Tx_version : 1 Tx_start : 20389529 Tx_end : 20605152 Exon_count : 25 Overlapped_tx_length : 35950 Overlapped_CDS_length : 1785 Overlapped_CDS_percent : 45 Frameshift : no Dist_nearest_SS : 1234 Nearest_SS_type : 3' Intersect_start : 20491646 Intersect_end : 20527596 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 35950 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron13-intron22Location : intron13-intron22 CytoBand : p11.23 Location2 : CDS Tx : XM_047440324 Tx_version : 1 Tx_start : 20389529 Tx_end : 20605152 Exon_count : 25 Overlapped_tx_length : 35950 Overlapped_CDS_length : 1785 Overlapped_CDS_percent : 45 Frameshift : no Dist_nearest_SS : 1234 Nearest_SS_type : 3' Intersect_start : 20491646 Intersect_end : 20527596 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 25902 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.19; 0.71; 0.35; 0.89 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:20496117-20496178 dbVar; po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20516882-20518061 Repeat_type_right : L1PBb Gap_right : . GC_content_right : 0.430 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 25902 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron17-intron22Location : intron17-intron22 CytoBand : p11.23 Location2 : CDS Tx : XM_047440324 Tx_version : 1 Tx_start : 20389529 Tx_end : 20605152 Exon_count : 25 Overlapped_tx_length : 25902 Overlapped_CDS_length : 1283 Overlapped_CDS_percent : 32 Frameshift : yes Dist_nearest_SS : 3368 Nearest_SS_type : 5' Intersect_start : 20491646 Intersect_end : 20517548 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 10163 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.08; 0.28; 0.14; 0.35 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:20496117-20496178 dbVar; po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20500001-20502234 Repeat_type_right : Tigger1 Gap_right : . GC_content_right : 0.425 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 10163 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron21-intron22Location : intron21-intron22 CytoBand : p11.23 Location2 : CDS Tx : XM_047440324 Tx_version : 1 Tx_start : 20389529 Tx_end : 20605152 Exon_count : 25 Overlapped_tx_length : 10163 Overlapped_CDS_length : 159 Overlapped_CDS_percent : 4 Frameshift : no Dist_nearest_SS : 1541 Nearest_SS_type : 5' Intersect_start : 20491646 Intersect_end : 20501809 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 33805 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.25; 0.93; 0.46; 1.17 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:20496117-20496178 dbVar; po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20516882-20518061 Repeat_type_right : L1PBb Gap_right : . GC_content_right : 0.430 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 33805 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron17-intron22Location : intron17-intron22 CytoBand : p11.23 Location2 : CDS Tx : XM_047440324 Tx_version : 1 Tx_start : 20389529 Tx_end : 20605152 Exon_count : 25 Overlapped_tx_length : 33805 Overlapped_CDS_length : 1283 Overlapped_CDS_percent : 32 Frameshift : yes Dist_nearest_SS : 3368 Nearest_SS_type : 5' Intersect_start : 20483743 Intersect_end : 20517548 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 23401 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.17; 0.64; 0.32; 0.81 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:20496117-20496178 dbVar; po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20507111-20507165 Repeat_type_right : L1MB4 Gap_right : . GC_content_right : 0.260 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 23401 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron19-intron22Location : intron19-intron22 CytoBand : p11.23 Location2 : CDS Tx : XM_047440324 Tx_version : 1 Tx_start : 20389529 Tx_end : 20605152 Exon_count : 25 Overlapped_tx_length : 23401 Overlapped_CDS_length : 439 Overlapped_CDS_percent : 11 Frameshift : yes Dist_nearest_SS : 1610 Nearest_SS_type : 3' Intersect_start : 20483743 Intersect_end : 20507144 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 18066 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.13; 0.49; 0.25; 0.62 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:20496117-20496178 dbVar; po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20500001-20502234 Repeat_type_right : Tigger1 Gap_right : . GC_content_right : 0.425 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 18066 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron21-intron22Location : intron21-intron22 CytoBand : p11.23 Location2 : CDS Tx : XM_047440324 Tx_version : 1 Tx_start : 20389529 Tx_end : 20605152 Exon_count : 25 Overlapped_tx_length : 18066 Overlapped_CDS_length : 159 Overlapped_CDS_percent : 4 Frameshift : no Dist_nearest_SS : 1541 Nearest_SS_type : 5' Intersect_start : 20483743 Intersect_end : 20501809 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.00; 0.01; 0.01; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.580 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.495 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
exon25-exon25Location : exon25-exon25 CytoBand : p11.23 Location2 : 3'UTR Tx : XM_047440324 Tx_version : 1 Tx_start : 20389529 Tx_end : 20605152 Exon_count : 25 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 334 Nearest_SS_type : 3' Intersect_start : 20392419 Intersect_end : 20392919 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 15832 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.12; 0.43; 0.22; 0.55 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:20376901-20377111 Repeat_type_left : MER58A Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.495 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 15832 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
exon25-txEndLocation : exon25-txEnd CytoBand : p11.23 Location2 : 3'UTR Tx : XM_047440324 Tx_version : 1 Tx_start : 20389529 Tx_end : 20605152 Exon_count : 25 Overlapped_tx_length : 3390 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 334 Nearest_SS_type : 3' Intersect_start : 20389529 Intersect_end : 20392919 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6131 Gene_count : 1 |
fullAnnotation_mode : full |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LOC124904877 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789 po_P_loss_percent : 0.05; 0.17 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:18442796-18454470 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18449556-18449785; 20:18449797-18450077 Repeat_type_left : AluSx1; AluSp Gap_left : . GC_content_left : 0.445 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18455536-18456095 Repeat_type_right : MLT1G Gap_right : . GC_content_right : 0.430 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6131 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron3-intron6Location : intron3-intron6 CytoBand : p11.23 Location2 : CDS Tx : NM_001351683 Tx_version : 4 Tx_start : 18383366 Tx_end : 18467030 Exon_count : 21 Overlapped_tx_length : 6131 Overlapped_CDS_length : 337 Overlapped_CDS_percent : 14 Frameshift : yes Dist_nearest_SS : 606 Nearest_SS_type : 3' Intersect_start : 18449836 Intersect_end : 18455967 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2016 Gene_count : 1 |
fullAnnotation_mode : full |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LOC124904877 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789 po_P_loss_percent : 0.01; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:18435052-18435114 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18433981-18434090; 20:18434201-18434262 Repeat_type_left : L1MA5A; L1M4a2 Gap_left : . GC_content_left : 0.220 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18435833-18436309 Repeat_type_right : L1M4a2 Gap_right : . GC_content_right : 0.315 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2016 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.23 Location2 : CDS Tx : XM_017027921 Tx_version : 3 Tx_start : 18383366 Tx_end : 18442927 Exon_count : 14 Overlapped_tx_length : 2016 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 358 Nearest_SS_type : 3' Intersect_start : 18434123 Intersect_end : 18436139 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LOC124904877 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789 po_P_loss_percent : 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18433981-18434090; 20:18434201-18434262 Repeat_type_left : L1MA5A; L1M4a2 Gap_left : . GC_content_left : 0.220 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18434263-18434567; 20:18434568-18435311 Repeat_type_right : AluSx1; L1M4a2 Gap_right : . GC_content_right : 0.425 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.23 Location2 : CDS Tx : XM_017027921 Tx_version : 3 Tx_start : 18383366 Tx_end : 18442927 Exon_count : 14 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 358 Nearest_SS_type : 3' Intersect_start : 18434123 Intersect_end : 18434623 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6763 Gene_count : 1 |
fullAnnotation_mode : full |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LOC124904877 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789 po_P_loss_percent : 0.05; 0.19 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:18435052-18435114 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18429164-18429426; 20:18429427-18429631 Repeat_type_left : MER110; L1MC1 Gap_left : . GC_content_left : 0.390 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18435833-18436309 Repeat_type_right : L1M4a2 Gap_right : . GC_content_right : 0.315 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 6763 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron1-intron2Location : intron1-intron2 CytoBand : p11.23 Location2 : CDS Tx : XM_017027921 Tx_version : 3 Tx_start : 18383366 Tx_end : 18442927 Exon_count : 14 Overlapped_tx_length : 6763 Overlapped_CDS_length : 114 Overlapped_CDS_percent : 7 Frameshift : no Dist_nearest_SS : 2217 Nearest_SS_type : 3' Intersect_start : 18429376 Intersect_end : 18436139 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 28680 Gene_count : 1 |
fullAnnotation_mode : full |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LOC124904877 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789 po_P_loss_percent : 0.21; 0.78 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:18435052-18435114 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18405221-18408033 Repeat_type_left : L1M1 Gap_left : . GC_content_left : 0.460 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18435833-18436309 Repeat_type_right : L1M4a2 Gap_right : . GC_content_right : 0.315 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 28680 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron1-intron6Location : intron1-intron6 CytoBand : p11.23 Location2 : CDS Tx : XM_017027921 Tx_version : 3 Tx_start : 18383366 Tx_end : 18442927 Exon_count : 14 Overlapped_tx_length : 28680 Overlapped_CDS_length : 703 Overlapped_CDS_percent : 45 Frameshift : yes Dist_nearest_SS : 2374 Nearest_SS_type : 3' Intersect_start : 18407459 Intersect_end : 18436139 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
SNRPB2Gene_name : SNRPB2; LOEUF_bin : 4 GnomAD_pLI : 5.0625e-02 ExAC_pLI : 3.2027e-01 HI : . TS : . DDD_HI_percent : 8.34 ExAC_cnvZ : -0.0496277305082918 ExAC_delZ : 0.771859823184666 ExAC_dupZ : -0.482720161963762 ExAC_synZ : -1.17291023799773 ExAC_misZ : 1.9222103282995 Closest_left : LOC105372542 Closest_right : OTOR |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:16731372-16731608 Repeat_type_left : MER113 Gap_left : . GC_content_left : 0.370 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.295 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
SNRPB2Gene_name : SNRPB2; LOEUF_bin : 4 GnomAD_pLI : 5.0625e-02 ExAC_pLI : 3.2027e-01 HI : . TS : . DDD_HI_percent : 8.34 ACMG : . ExAC_cnvZ : -0.0496277305082918 ExAC_delZ : 0.771859823184666 ExAC_dupZ : -0.482720161963762 ExAC_synZ : -1.17291023799773 ExAC_misZ : 1.9222103282995 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6629 |
intron1-intron2Location : intron1-intron2 CytoBand : p12.1 Location2 : 5'UTR-CDS Tx : NM_003092 Tx_version : 5 Tx_start : 16730025 Tx_end : 16742564 Exon_count : 7 Overlapped_tx_length : 500 Overlapped_CDS_length : 64 Overlapped_CDS_percent : 9 Frameshift : yes Dist_nearest_SS : 175 Nearest_SS_type : 3' Intersect_start : 16731488 Intersect_end : 16731988 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3822 Gene_count : 1 |
fullAnnotation_mode : full |
KIF16BGene_name : KIF16B; LOEUF_bin : 4 GnomAD_pLI : 2.1000e-19 ExAC_pLI : 4.3534e-13 HI : . TS : . DDD_HI_percent : 44.94 ExAC_cnvZ : -1.16189573124657 ExAC_delZ : -1.60172301045439 ExAC_dupZ : -1.02936418591749 ExAC_synZ : 0.550930180287603 ExAC_misZ : 1.01862143775346 Closest_left : LOC124904874 Closest_right : LOC124904875 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.03; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.430 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:16478233-16478417; 20:16478418-16478915 Repeat_type_right : L1ME3A; MER44B Gap_right : . GC_content_right : 0.400 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3822 |
splitAnnotation_mode : split |
KIF16BGene_name : KIF16B; LOEUF_bin : 4 GnomAD_pLI : 2.1000e-19 ExAC_pLI : 4.3534e-13 HI : . TS : . DDD_HI_percent : 44.94 ACMG : . ExAC_cnvZ : -1.16189573124657 ExAC_delZ : -1.60172301045439 ExAC_dupZ : -1.02936418591749 ExAC_synZ : 0.550930180287603 ExAC_misZ : 1.01862143775346 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55614 |
intron12-intron12Location : intron12-intron12 CytoBand : p12.1 Location2 : CDS Tx : NM_001199865 Tx_version : 2 Tx_start : 16272103 Tx_end : 16573448 Exon_count : 25 Overlapped_tx_length : 3822 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 15784 Nearest_SS_type : 5' Intersect_start : 16474684 Intersect_end : 16478506 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
KIF16BGene_name : KIF16B; LOEUF_bin : 4 GnomAD_pLI : 2.1000e-19 ExAC_pLI : 4.3534e-13 HI : . TS : . DDD_HI_percent : 44.94 ExAC_cnvZ : -1.16189573124657 ExAC_delZ : -1.60172301045439 ExAC_dupZ : -1.02936418591749 ExAC_synZ : 0.550930180287603 ExAC_misZ : 1.01862143775346 Closest_left : LOC124904874 Closest_right : LOC124904875 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.430 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:16475217-16475440 Repeat_type_right : MIR Gap_right : . GC_content_right : 0.320 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
KIF16BGene_name : KIF16B; LOEUF_bin : 4 GnomAD_pLI : 2.1000e-19 ExAC_pLI : 4.3534e-13 HI : . TS : . DDD_HI_percent : 44.94 ACMG : . ExAC_cnvZ : -1.16189573124657 ExAC_delZ : -1.60172301045439 ExAC_dupZ : -1.02936418591749 ExAC_synZ : 0.550930180287603 ExAC_misZ : 1.01862143775346 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55614 |
intron12-intron12Location : intron12-intron12 CytoBand : p12.1 Location2 : CDS Tx : NM_001199865 Tx_version : 2 Tx_start : 16272103 Tx_end : 16573448 Exon_count : 25 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 19106 Nearest_SS_type : 5' Intersect_start : 16474684 Intersect_end : 16475184 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
MACROD2Gene_name : MACROD2; LOEUF_bin : 2 GnomAD_pLI : 4.3472e-01 ExAC_pLI : 1.1357e-02 HI : . TS : . DDD_HI_percent : 1.49 ExAC_cnvZ : -0.692742758341261 ExAC_delZ : -1.18278709618643 ExAC_dupZ : -0.597815534527543 ExAC_synZ : 0.337580800459273 ExAC_misZ : 0.372539789325987 Closest_left : MACROD2-AS1 Closest_right : LOC613266 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:15865525-15866126; 20:15866128-15866424 Repeat_type_left : MER73; AluJr Gap_left : . GC_content_left : 0.445 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.405 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
MACROD2Gene_name : MACROD2; LOEUF_bin : 2 GnomAD_pLI : 4.3472e-01 ExAC_pLI : 1.1357e-02 HI : . TS : . DDD_HI_percent : 1.49 ACMG : . ExAC_cnvZ : -0.692742758341261 ExAC_delZ : -1.18278709618643 ExAC_dupZ : -0.597815534527543 ExAC_synZ : 0.337580800459273 ExAC_misZ : 0.372539789325987 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140733 |
intron9-intron9Location : intron9-intron9 CytoBand : p12.1 Location2 : CDS Tx : NM_001351661 Tx_version : 2 Tx_start : 13995515 Tx_end : 16053197 Exon_count : 18 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3331 Nearest_SS_type : 5' Intersect_start : 15866157 Intersect_end : 15866657 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 12943 Gene_count : 1 |
fullAnnotation_mode : full |
SEL1L2Gene_name : SEL1L2; LOEUF_bin : 6 GnomAD_pLI : 7.3382e-20 ExAC_pLI : 2.6913e-11 HI : . TS : . DDD_HI_percent : 27.53 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.181765464082087 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.597274324545503 ExAC_misZ : -0.551281570491424 Closest_left : NDUFAF5 Closest_right : MACROD2 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567; dbVar:nssv18787641 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012; 20:13785070-14327506 po_P_loss_percent : 0.09; 0.10; 2.39 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13856133-13856429 Repeat_type_left : AluSz6 Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.375 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 12943 |
splitAnnotation_mode : split |
SEL1L2Gene_name : SEL1L2; LOEUF_bin : 6 GnomAD_pLI : 7.3382e-20 ExAC_pLI : 2.6913e-11 HI : . TS : . DDD_HI_percent : 27.53 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.181765464082087 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.597274324545503 ExAC_misZ : -0.551281570491424 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80343 |
intron14-intron18Location : intron14-intron18 CytoBand : p12.1 Location2 : CDS Tx : NM_025229 Tx_version : 2 Tx_start : 13849246 Tx_end : 13990614 Exon_count : 20 Overlapped_tx_length : 12943 Overlapped_CDS_length : 563 Overlapped_CDS_percent : 27 Frameshift : yes Dist_nearest_SS : 127 Nearest_SS_type : 5' Intersect_start : 13856432 Intersect_end : 13869375 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3301 Gene_count : 1 |
fullAnnotation_mode : full |
SEL1L2Gene_name : SEL1L2; LOEUF_bin : 6 GnomAD_pLI : 7.3382e-20 ExAC_pLI : 2.6913e-11 HI : . TS : . DDD_HI_percent : 27.53 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.181765464082087 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.597274324545503 ExAC_misZ : -0.551281570491424 Closest_left : NDUFAF5 Closest_right : MACROD2 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567; dbVar:nssv18787641 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012; 20:13785070-14327506 po_P_loss_percent : 0.02; 0.02; 0.61 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:13850393-13850878 Repeat_type_right : MLT1E2 Gap_right : . GC_content_right : 0.390 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3301 |
splitAnnotation_mode : split |
SEL1L2Gene_name : SEL1L2; LOEUF_bin : 6 GnomAD_pLI : 7.3382e-20 ExAC_pLI : 2.6913e-11 HI : . TS : . DDD_HI_percent : 27.53 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.181765464082087 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.597274324545503 ExAC_misZ : -0.551281570491424 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80343 |
intron9-txEndLocation : intron9-txEnd CytoBand : p12.1 Location2 : CDS-3'UTR Tx : XM_006723654 Tx_version : 5 Tx_start : 13849402 Tx_end : 13886417 Exon_count : 11 Overlapped_tx_length : 995 Overlapped_CDS_length : 252 Overlapped_CDS_percent : 23 Frameshift : no Dist_nearest_SS : 78 Nearest_SS_type : 3' Intersect_start : 13849402 Intersect_end : 13850397 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 23814 Gene_count : 1 |
fullAnnotation_mode : full |
SEL1L2Gene_name : SEL1L2; LOEUF_bin : 6 GnomAD_pLI : 7.3382e-20 ExAC_pLI : 2.6913e-11 HI : . TS : . DDD_HI_percent : 27.53 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.181765464082087 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.597274324545503 ExAC_misZ : -0.551281570491424 Closest_left : NDUFAF5 Closest_right : MACROD2 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567; dbVar:nssv18787641 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012; 20:13785070-14327506 po_P_loss_percent : 0.17; 0.18; 4.39 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13845600-13845897 Repeat_type_left : AluSc Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.375 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 23814 |
splitAnnotation_mode : split |
SEL1L2Gene_name : SEL1L2; LOEUF_bin : 6 GnomAD_pLI : 7.3382e-20 ExAC_pLI : 2.6913e-11 HI : . TS : . DDD_HI_percent : 27.53 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.181765464082087 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.597274324545503 ExAC_misZ : -0.551281570491424 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80343 |
intron5-txEndLocation : intron5-txEnd CytoBand : p12.1 Location2 : CDS-3'UTR Tx : XM_006723654 Tx_version : 5 Tx_start : 13849402 Tx_end : 13886417 Exon_count : 11 Overlapped_tx_length : 19973 Overlapped_CDS_length : 815 Overlapped_CDS_percent : 76 Frameshift : yes Dist_nearest_SS : 127 Nearest_SS_type : 5' Intersect_start : 13849402 Intersect_end : 13869375 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 29719 Gene_count : 1 |
fullAnnotation_mode : full |
SEL1L2Gene_name : SEL1L2; LOEUF_bin : 6 GnomAD_pLI : 7.3382e-20 ExAC_pLI : 2.6913e-11 HI : . TS : . DDD_HI_percent : 27.53 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.181765464082087 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.597274324545503 ExAC_misZ : -0.551281570491424 Closest_left : NDUFAF5 Closest_right : MACROD2 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567; dbVar:nssv18787641 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012; 20:13785070-14327506 po_P_loss_percent : 0.21; 0.22; 5.48 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:13839903-13845210 dbVar po_B_loss_someG_coord : 20:13839804-13839900 CMRI:0_pbsv.DEL.175_duplicate8 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13839519-13840048 Repeat_type_left : MLT1D Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.375 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 29719 |
splitAnnotation_mode : split |
SEL1L2Gene_name : SEL1L2; LOEUF_bin : 6 GnomAD_pLI : 7.3382e-20 ExAC_pLI : 2.6913e-11 HI : . TS : . DDD_HI_percent : 27.53 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.181765464082087 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.597274324545503 ExAC_misZ : -0.551281570491424 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80343 |
intron5-txEndLocation : intron5-txEnd CytoBand : p12.1 Location2 : CDS-3'UTR Tx : XM_006723654 Tx_version : 5 Tx_start : 13849402 Tx_end : 13886417 Exon_count : 11 Overlapped_tx_length : 19973 Overlapped_CDS_length : 815 Overlapped_CDS_percent : 76 Frameshift : yes Dist_nearest_SS : 127 Nearest_SS_type : 5' Intersect_start : 13849402 Intersect_end : 13869375 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11283 Gene_count : 1 |
fullAnnotation_mode : full |
ESF1Gene_name : ESF1; LOEUF_bin : 2 GnomAD_pLI : 1.7818e-02 ExAC_pLI : 8.4445e-02 HI : . TS : . DDD_HI_percent : 29.14 ExAC_cnvZ : -0.612357943123988 ExAC_delZ : 0.118511275926083 ExAC_dupZ : -0.96756795437444 ExAC_synZ : -0.340242886246339 ExAC_misZ : -1.06031877197673 Closest_left : LOC124904872 Closest_right : NDUFAF5 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.08; 0.08 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:13774522-13774614 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.230 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11283 |
splitAnnotation_mode : split |
ESF1Gene_name : ESF1; LOEUF_bin : 2 GnomAD_pLI : 1.7818e-02 ExAC_pLI : 8.4445e-02 HI : . TS : . DDD_HI_percent : 29.14 ACMG : . ExAC_cnvZ : -0.612357943123988 ExAC_delZ : 0.118511275926083 ExAC_dupZ : -0.96756795437444 ExAC_synZ : -0.340242886246339 ExAC_misZ : -1.06031877197673 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51575 |
intron2-intron7Location : intron2-intron7 CytoBand : p12.1 Location2 : CDS Tx : NM_001276380 Tx_version : 2 Tx_start : 13714324 Tx_end : 13784919 Exon_count : 14 Overlapped_tx_length : 11283 Overlapped_CDS_length : 881 Overlapped_CDS_percent : 34 Frameshift : yes Dist_nearest_SS : 1148 Nearest_SS_type : 3' Intersect_start : 13768072 Intersect_end : 13779355 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8379 Gene_count : 1 |
fullAnnotation_mode : full |
ESF1Gene_name : ESF1; LOEUF_bin : 2 GnomAD_pLI : 1.7818e-02 ExAC_pLI : 8.4445e-02 HI : . TS : . DDD_HI_percent : 29.14 ExAC_cnvZ : -0.612357943123988 ExAC_delZ : 0.118511275926083 ExAC_dupZ : -0.96756795437444 ExAC_synZ : -0.340242886246339 ExAC_misZ : -1.06031877197673 Closest_left : LOC124904872 Closest_right : NDUFAF5 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.06; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:13748517-13748561 HPRC:pbsv.DEL.1064 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13747279-13747617; 20:13747672-13747812 Repeat_type_left : AluSc; Tigger3c Gap_left : . GC_content_left : 0.310 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:13756149-13756215 Repeat_type_right : MIR Gap_right : . GC_content_right : 0.365 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 8379 |
splitAnnotation_mode : split |
ESF1Gene_name : ESF1; LOEUF_bin : 2 GnomAD_pLI : 1.7818e-02 ExAC_pLI : 8.4445e-02 HI : . TS : . DDD_HI_percent : 29.14 ACMG : . ExAC_cnvZ : -0.612357943123988 ExAC_delZ : 0.118511275926083 ExAC_dupZ : -0.96756795437444 ExAC_synZ : -0.340242886246339 ExAC_misZ : -1.06031877197673 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51575 |
intron9-intron9Location : intron9-intron9 CytoBand : p12.1 Location2 : CDS Tx : NM_001276380 Tx_version : 2 Tx_start : 13714324 Tx_end : 13784919 Exon_count : 14 Overlapped_tx_length : 8379 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3640 Nearest_SS_type : 5' Intersect_start : 13747672 Intersect_end : 13756051 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 41447 Gene_count : 1 |
fullAnnotation_mode : full |
ESF1Gene_name : ESF1; LOEUF_bin : 2 GnomAD_pLI : 1.7818e-02 ExAC_pLI : 8.4445e-02 HI : . TS : . DDD_HI_percent : 29.14 ExAC_cnvZ : -0.612357943123988 ExAC_delZ : 0.118511275926083 ExAC_dupZ : -0.96756795437444 ExAC_synZ : -0.340242886246339 ExAC_misZ : -1.06031877197673 Closest_left : LOC124904872 Closest_right : NDUFAF5 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.30; 0.31 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:13704740-13705473 dbVar; 20:13704756-13705467 DDD:54351; chr20:13709025-13709326 dbVar; chr20:13713691-13713743 dbVar po_B_loss_someG_coord : chr20:13702179-13702759 dbVar; 20:13704741-13705473 1000g; chr20:13704758-13705467 dbVar; chr20:13709066-13709612 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13699109-13699403 Repeat_type_left : AluJr Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:13740401-13740738 Repeat_type_right : L1ME3F Gap_right : . GC_content_right : 0.385 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 41447 |
splitAnnotation_mode : split |
ESF1Gene_name : ESF1; LOEUF_bin : 2 GnomAD_pLI : 1.7818e-02 ExAC_pLI : 8.4445e-02 HI : . TS : . DDD_HI_percent : 29.14 ACMG : . ExAC_cnvZ : -0.612357943123988 ExAC_delZ : 0.118511275926083 ExAC_dupZ : -0.96756795437444 ExAC_synZ : -0.340242886246339 ExAC_misZ : -1.06031877197673 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51575 |
intron9-txEndLocation : intron9-txEnd CytoBand : p12.1 Location2 : CDS-3'UTR Tx : NM_001276380 Tx_version : 2 Tx_start : 13714324 Tx_end : 13784919 Exon_count : 14 Overlapped_tx_length : 26426 Overlapped_CDS_length : 728 Overlapped_CDS_percent : 28 Frameshift : yes Dist_nearest_SS : 6908 Nearest_SS_type : 3' Intersect_start : 13714324 Intersect_end : 13740750 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 61949 Gene_count : 1 |
fullAnnotation_mode : full |
ESF1Gene_name : ESF1; LOEUF_bin : 2 GnomAD_pLI : 1.7818e-02 ExAC_pLI : 8.4445e-02 HI : . TS : . DDD_HI_percent : 29.14 ExAC_cnvZ : -0.612357943123988 ExAC_delZ : 0.118511275926083 ExAC_dupZ : -0.96756795437444 ExAC_synZ : -0.340242886246339 ExAC_misZ : -1.06031877197673 Closest_left : LOC124904872 Closest_right : NDUFAF5 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.44; 0.46 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:13704740-13705473 dbVar; 20:13704756-13705467 DDD:54351; chr20:13709025-13709326 dbVar; chr20:13713691-13713743 dbVar; po_B_loss_someG_coord : chr20:13702179-13702759 dbVar; 20:13704741-13705473 1000g; chr20:13704758-13705467 dbVar; chr20:13709066-13709612 dbVar; chr20:13748517-13748561 HPRC:pbsv.DEL.1064 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13695206-13695653 Repeat_type_left : L4_B_Mam Gap_left : . GC_content_left : 0.445 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:13757140-13757313 Repeat_type_right : L1MC Gap_right : . GC_content_right : 0.295 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 61949 |
splitAnnotation_mode : split |
ESF1Gene_name : ESF1; LOEUF_bin : 2 GnomAD_pLI : 1.7818e-02 ExAC_pLI : 8.4445e-02 HI : . TS : . DDD_HI_percent : 29.14 ACMG : . ExAC_cnvZ : -0.612357943123988 ExAC_delZ : 0.118511275926083 ExAC_dupZ : -0.96756795437444 ExAC_synZ : -0.340242886246339 ExAC_misZ : -1.06031877197673 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51575 |
intron9-txEndLocation : intron9-txEnd CytoBand : p12.1 Location2 : CDS-3'UTR Tx : NM_001276380 Tx_version : 2 Tx_start : 13714324 Tx_end : 13784919 Exon_count : 14 Overlapped_tx_length : 42842 Overlapped_CDS_length : 728 Overlapped_CDS_percent : 28 Frameshift : yes Dist_nearest_SS : 2525 Nearest_SS_type : 5' Intersect_start : 13714324 Intersect_end : 13757166 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
SPTLC3Gene_name : SPTLC3; LOEUF_bin : 4 GnomAD_pLI : 3.2277e-07 ExAC_pLI : 2.7552e-03 HI : . TS : . DDD_HI_percent : 55.96 ExAC_cnvZ : -1.17887220601726 ExAC_delZ : -0.716653814749956 ExAC_dupZ : -1.41345273995757 ExAC_synZ : -0.300391139079614 ExAC_misZ : 0.282423350871239 Closest_left : LINC01723 Closest_right : TASP1 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012 po_P_loss_percent : 0.00; 0.01; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13071116-13071624 Repeat_type_left : MER75 Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.405 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
SPTLC3Gene_name : SPTLC3; LOEUF_bin : 4 GnomAD_pLI : 3.2277e-07 ExAC_pLI : 2.7552e-03 HI : . TS : . DDD_HI_percent : 55.96 ACMG : . ExAC_cnvZ : -1.17887220601726 ExAC_delZ : -0.716653814749956 ExAC_dupZ : -1.41345273995757 ExAC_synZ : -0.300391139079614 ExAC_misZ : 0.282423350871239 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55304 |
intron2-intron2Location : intron2-intron2 CytoBand : p12.1 Location2 : CDS Tx : XM_047440256 Tx_version : 1 Tx_start : 13008971 Tx_end : 13126717 Exon_count : 8 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 276 Nearest_SS_type : 3' Intersect_start : 13071479 Intersect_end : 13071979 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2593 Gene_count : 1 |
fullAnnotation_mode : full |
SPTLC3Gene_name : SPTLC3; LOEUF_bin : 4 GnomAD_pLI : 3.2277e-07 ExAC_pLI : 2.7552e-03 HI : . TS : . DDD_HI_percent : 55.96 ExAC_cnvZ : -1.17887220601726 ExAC_delZ : -0.716653814749956 ExAC_dupZ : -1.41345273995757 ExAC_synZ : -0.300391139079614 ExAC_misZ : 0.282423350871239 Closest_left : LINC01723 Closest_right : TASP1 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012 po_P_loss_percent : 0.02; 0.04; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13052073-13053986 Repeat_type_left : L1P3 Gap_left : . GC_content_left : 0.550 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:13055177-13055323 Repeat_type_right : LTR86B1 Gap_right : . GC_content_right : 0.420 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2593 |
splitAnnotation_mode : split |
SPTLC3Gene_name : SPTLC3; LOEUF_bin : 4 GnomAD_pLI : 3.2277e-07 ExAC_pLI : 2.7552e-03 HI : . TS : . DDD_HI_percent : 55.96 ACMG : . ExAC_cnvZ : -1.17887220601726 ExAC_delZ : -0.716653814749956 ExAC_dupZ : -1.41345273995757 ExAC_synZ : -0.300391139079614 ExAC_misZ : 0.282423350871239 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55304 |
intron2-intron2Location : intron2-intron2 CytoBand : p12.1 Location2 : CDS Tx : XM_047440256 Tx_version : 1 Tx_start : 13008971 Tx_end : 13126717 Exon_count : 8 Overlapped_tx_length : 2593 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3522 Nearest_SS_type : 5' Intersect_start : 13052652 Intersect_end : 13055245 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2H (SNAP25, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%) 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 898 Gene_count : 1 |
fullAnnotation_mode : full |
SNAP25Gene_name : SNAP25; LOEUF_bin : 0 GnomAD_pLI : 9.8653e-01 ExAC_pLI : 9.5981e-01 HI : . TS : . DDD_HI_percent : 3.88 ExAC_cnvZ : 0.810133049340259 ExAC_delZ : 0.668131025540279 ExAC_dupZ : 0.594663384351909 ExAC_synZ : 1.44353061933591 ExAC_misZ : 3.23331193749431 Closest_left : LOC124904959 Closest_right : MKKS |
.Location : . CytoBand : p12.2 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567; dbVar:nssv15147284; dbVar:nssv15606052; dbVar:nssv15771677 po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012; 20:9550976-12083434; 20:10144208-11498457; 20:10253610-10673550 po_P_loss_percent : 0.01; 0.01; 0.01; 0.01; 0.03; 0.01; 0.04; 0.07; 0.21 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:10273209-10273225; 20:10273371-10273594 Repeat_type_left : (AAT)n; MLT1J1 Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:10273977-10274136 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.480 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 898 |
splitAnnotation_mode : split |
SNAP25Gene_name : SNAP25; LOEUF_bin : 0 GnomAD_pLI : 9.8653e-01 ExAC_pLI : 9.5981e-01 HI : . TS : . DDD_HI_percent : 3.88 ACMG : . ExAC_cnvZ : 0.810133049340259 ExAC_delZ : 0.668131025540279 ExAC_dupZ : 0.594663384351909 ExAC_synZ : 1.44353061933591 ExAC_misZ : 3.23331193749431 GenCC_disease : congenital myasthenic syndrome 18; developmental and epileptic encephalopathy; presynaptic congenital myasthenic syndrome GenCC_moi : AD GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive GenCC_pmid : 25381298; 25381298[PMID]_25792100[PMID]; 29056461 NCBI_gene_ID : 6616 |
intron1-intron1Location : intron1-intron1 CytoBand : p12.2 Location2 : 5'UTR Tx : XM_047440391 Tx_version : 1 Tx_start : 10218829 Tx_end : 10297054 Exon_count : 6 Overlapped_tx_length : 898 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1252 Nearest_SS_type : 3' Intersect_start : 10273278 Intersect_end : 10274176 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1357 Gene_count : 1 |
fullAnnotation_mode : full |
MCM8Gene_name : MCM8; LOEUF_bin : 5 GnomAD_pLI : 1.0536e-16 ExAC_pLI : 1.9289e-10 HI : . TS : . DDD_HI_percent : 0.31 ExAC_cnvZ : 0.670689793926319 ExAC_delZ : 0.0652954789617851 ExAC_dupZ : 0.894892763763837 ExAC_synZ : -0.951232916035886 ExAC_misZ : -0.0604974802456897 Closest_left : TRMT6 Closest_right : MCM8-AS1 |
.Location : . CytoBand : p12.3 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
FERMT1 (morbid/RE=EA_enhancer); RE_gene : FERMT1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857 po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370 po_P_loss_percent : 0.02; 0.01; 0.02; 0.05; 0.02; 1.18 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:5973664-5973950 Repeat_type_left : AluSz6 Gap_left : . GC_content_left : 0.510 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:5974979-5975279 Repeat_type_right : AluJr Gap_right : . GC_content_right : 0.405 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1357 |
splitAnnotation_mode : split |
MCM8Gene_name : MCM8; LOEUF_bin : 5 GnomAD_pLI : 1.0536e-16 ExAC_pLI : 1.9289e-10 HI : . TS : . DDD_HI_percent : 0.31 ACMG : . ExAC_cnvZ : 0.670689793926319 ExAC_delZ : 0.0652954789617851 ExAC_dupZ : 0.894892763763837 ExAC_synZ : -0.951232916035886 ExAC_misZ : -0.0604974802456897 GenCC_disease : premature ovarian failure 10 GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 22771120; 251316; 251370; 25437880; 25873734; 27573988; 27802094; 282878; 28863940; 31042289 NCBI_gene_ID : 84515 |
intron12-intron12Location : intron12-intron12 CytoBand : p12.3 Location2 : CDS Tx : XM_047440554 Tx_version : 1 Tx_start : 5950651 Tx_end : 5977967 Exon_count : 14 Overlapped_tx_length : 1357 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 704 Nearest_SS_type : 5' Intersect_start : 5973900 Intersect_end : 5975257 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1238 Gene_count : 1 |
fullAnnotation_mode : full |
CHGBGene_name : CHGB; LOEUF_bin : 4 GnomAD_pLI : 2.3622e-07 ExAC_pLI : 3.8164e-07 HI : . TS : . DDD_HI_percent : 72.37 ExAC_cnvZ : 0.338652320699006 ExAC_delZ : 0.214607002761655 ExAC_dupZ : 0.204801876710487 ExAC_synZ : -0.497922486404799 ExAC_misZ : -0.874076392144116 Closest_left : SHLD1 Closest_right : TRMT6 |
.Location : . CytoBand : p12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857 po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370 po_P_loss_percent : 0.02; 0.01; 0.01; 0.05; 0.01; 1.08 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:5924309-5924471 Repeat_type_left : MER5B Gap_left : . GC_content_left : 0.440 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:5925790-5925803 Repeat_type_right : (AG)n Gap_right : . GC_content_right : 0.395 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1238 |
splitAnnotation_mode : split |
CHGBGene_name : CHGB; LOEUF_bin : 4 GnomAD_pLI : 2.3622e-07 ExAC_pLI : 3.8164e-07 HI : . TS : . DDD_HI_percent : 72.37 ACMG : . ExAC_cnvZ : 0.338652320699006 ExAC_delZ : 0.214607002761655 ExAC_dupZ : 0.204801876710487 ExAC_synZ : -0.497922486404799 ExAC_misZ : -0.874076392144116 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1114 |
intron4-txEndLocation : intron4-txEnd CytoBand : p12.3 Location2 : CDS-3'UTR Tx : NM_001819 Tx_version : 3 Tx_start : 5911509 Tx_end : 5925353 Exon_count : 5 Overlapped_tx_length : 892 Overlapped_CDS_length : 78 Overlapped_CDS_percent : 3 Frameshift : no Dist_nearest_SS : 361 Nearest_SS_type : 5' Intersect_start : 5924461 Intersect_end : 5925353 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
GPCPD1Gene_name : GPCPD1; LOEUF_bin : 1 GnomAD_pLI : 2.0180e-01 ExAC_pLI : 1.2557e-01 HI : . TS : . DDD_HI_percent : 27.83 ExAC_cnvZ : -1.41579711721871 ExAC_delZ : 1.14916227330992 ExAC_dupZ : -2.21394792459171 ExAC_synZ : -0.26064583429239 ExAC_misZ : 1.93403578081003 Closest_left : LINC01729 Closest_right : LOC124904864 |
.Location : . CytoBand : p12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999 po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121 po_P_loss_percent : 0.01; 0.00; 0.01; 0.02; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.370 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.280 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
GPCPD1Gene_name : GPCPD1; LOEUF_bin : 1 GnomAD_pLI : 2.0180e-01 ExAC_pLI : 1.2557e-01 HI : . TS : . DDD_HI_percent : 27.83 ACMG : . ExAC_cnvZ : -1.41579711721871 ExAC_delZ : 1.14916227330992 ExAC_dupZ : -2.21394792459171 ExAC_synZ : -0.26064583429239 ExAC_misZ : 1.93403578081003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 56261 |
intron5-intron5Location : intron5-intron5 CytoBand : p12.3 Location2 : CDS Tx : NM_019593 Tx_version : 5 Tx_start : 5544438 Tx_end : 5611006 Exon_count : 20 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 436 Nearest_SS_type : 3' Intersect_start : 5584758 Intersect_end : 5585258 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 24856 Gene_count : 1 |
fullAnnotation_mode : full |
GPCPD1Gene_name : GPCPD1; LOEUF_bin : 1 GnomAD_pLI : 2.0180e-01 ExAC_pLI : 1.2557e-01 HI : . TS : . DDD_HI_percent : 27.83 ExAC_cnvZ : -1.41579711721871 ExAC_delZ : 1.14916227330992 ExAC_dupZ : -2.21394792459171 ExAC_synZ : -0.26064583429239 ExAC_misZ : 1.93403578081003 Closest_left : LINC01729 Closest_right : LOC124904864 |
.Location : . CytoBand : p12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121 po_P_loss_percent : 0.43; 0.27; 0.18; 0.29; 0.97; 0.30 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.265 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.280 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 24856 |
splitAnnotation_mode : split |
GPCPD1Gene_name : GPCPD1; LOEUF_bin : 1 GnomAD_pLI : 2.0180e-01 ExAC_pLI : 1.2557e-01 HI : . TS : . DDD_HI_percent : 27.83 ACMG : . ExAC_cnvZ : -1.41579711721871 ExAC_delZ : 1.14916227330992 ExAC_dupZ : -2.21394792459171 ExAC_synZ : -0.26064583429239 ExAC_misZ : 1.93403578081003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 56261 |
intron5-intron16Location : intron5-intron16 CytoBand : p12.3 Location2 : CDS Tx : NM_019593 Tx_version : 5 Tx_start : 5544438 Tx_end : 5611006 Exon_count : 20 Overlapped_tx_length : 24856 Overlapped_CDS_length : 1088 Overlapped_CDS_percent : 53 Frameshift : yes Dist_nearest_SS : 326 Nearest_SS_type : 3' Intersect_start : 5560402 Intersect_end : 5585258 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 14475 Gene_count : 1 |
fullAnnotation_mode : full |
GPCPD1Gene_name : GPCPD1; LOEUF_bin : 1 GnomAD_pLI : 2.0180e-01 ExAC_pLI : 1.2557e-01 HI : . TS : . DDD_HI_percent : 27.83 ExAC_cnvZ : -1.41579711721871 ExAC_delZ : 1.14916227330992 ExAC_dupZ : -2.21394792459171 ExAC_synZ : -0.26064583429239 ExAC_misZ : 1.93403578081003 Closest_left : LINC01729 Closest_right : LOC124904864 |
.Location : . CytoBand : p12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
PROKR2 (morbid/RE=EA_enhancer); FERMT1 (morbi[...]RE_gene : PROKR2 (morbid/RE=EA_enhancer); FERMT1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121 po_P_loss_percent : 0.25; 0.57; 0.10; 0.17; 0.56; 0.17 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:5553899-5554275 HPRC:pbsv.DEL.553; 20:5553900-5554275 1000g; chr20:5553901-5554275 dbVar; 20:5553902-5554275 IMH po_B_loss_someG_coord : 20:5553899-5554275 CMRI:0_pbsv.DEL.92_duplicate10; chr20:5553899-5554275 dbVar; chr20:5553900-5554275 dbVar; chr20:5553901-5554275 gnomAD-SV_v3_DEL_chr20_8c15efc3 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:5539545-5540239 Repeat_type_left : LTR8B Gap_left : . GC_content_left : 0.475 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:5554284-5555258 Repeat_type_right : Tigger1 Gap_right : . GC_content_right : 0.365 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 14475 |
splitAnnotation_mode : split |
GPCPD1Gene_name : GPCPD1; LOEUF_bin : 1 GnomAD_pLI : 2.0180e-01 ExAC_pLI : 1.2557e-01 HI : . TS : . DDD_HI_percent : 27.83 ACMG : . ExAC_cnvZ : -1.41579711721871 ExAC_delZ : 1.14916227330992 ExAC_dupZ : -2.21394792459171 ExAC_synZ : -0.26064583429239 ExAC_misZ : 1.93403578081003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 56261 |
intron19-txEndLocation : intron19-txEnd CytoBand : p12.3 Location2 : CDS-3'UTR Tx : NM_019593 Tx_version : 5 Tx_start : 5544438 Tx_end : 5611006 Exon_count : 20 Overlapped_tx_length : 10371 Overlapped_CDS_length : 190 Overlapped_CDS_percent : 9 Frameshift : yes Dist_nearest_SS : 3135 Nearest_SS_type : 5' Intersect_start : 5544438 Intersect_end : 5554809 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 18487 Gene_count : 1 |
fullAnnotation_mode : full |
GPCPD1Gene_name : GPCPD1; LOEUF_bin : 1 GnomAD_pLI : 2.0180e-01 ExAC_pLI : 1.2557e-01 HI : . TS : . DDD_HI_percent : 27.83 ExAC_cnvZ : -1.41579711721871 ExAC_delZ : 1.14916227330992 ExAC_dupZ : -2.21394792459171 ExAC_synZ : -0.26064583429239 ExAC_misZ : 1.93403578081003 Closest_left : LINC01729 Closest_right : LOC124904864 |
.Location : . CytoBand : p12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
FERMT1 (morbid/RE=EA_enhancer); PROKR2 (morbi[...]RE_gene : FERMT1 (morbid/RE=EA_enhancer); PROKR2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121 po_P_loss_percent : 0.32; 0.73; 0.13; 0.21; 0.72; 0.22 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:5553899-5554275 HPRC:pbsv.DEL.553; 20:5553900-5554275 1000g; chr20:5553901-5554275 dbVar; 20:5553902-5554275 IMH po_B_loss_someG_coord : 20:5553899-5554275 CMRI:0_pbsv.DEL.92_duplicate10; chr20:5553899-5554275 dbVar; chr20:5553900-5554275 dbVar; chr20:5553901-5554275 gnomAD-SV_v3_DEL_chr20_8c15efc3 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:5538151-5538452 Repeat_type_left : AluSg Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:5556732-5557692 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.405 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 18487 |
splitAnnotation_mode : split |
GPCPD1Gene_name : GPCPD1; LOEUF_bin : 1 GnomAD_pLI : 2.0180e-01 ExAC_pLI : 1.2557e-01 HI : . TS : . DDD_HI_percent : 27.83 ACMG : . ExAC_cnvZ : -1.41579711721871 ExAC_delZ : 1.14916227330992 ExAC_dupZ : -2.21394792459171 ExAC_synZ : -0.26064583429239 ExAC_misZ : 1.93403578081003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 56261 |
intron19-txEndLocation : intron19-txEnd CytoBand : p12.3 Location2 : CDS-3'UTR Tx : NM_019593 Tx_version : 5 Tx_start : 5544438 Tx_end : 5611006 Exon_count : 20 Overlapped_tx_length : 12388 Overlapped_CDS_length : 190 Overlapped_CDS_percent : 9 Frameshift : yes Dist_nearest_SS : 1118 Nearest_SS_type : 5' Intersect_start : 5544438 Intersect_end : 5556826 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4021 Gene_count : 1 |
fullAnnotation_mode : full |
TMEM230Gene_name : TMEM230; LOEUF_bin : 8 GnomAD_pLI : 1.8056e-04 ExAC_pLI : 1.3820e-02 HI : . TS : . DDD_HI_percent : 36.62 ExAC_cnvZ : -0.324192381306669 ExAC_delZ : 0.232658514527564 ExAC_dupZ : -0.567378188878657 ExAC_synZ : 0.139871336005673 ExAC_misZ : 1.21188811838716 Closest_left : SLC23A2 Closest_right : PCNA |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121 po_P_loss_percent : 0.07; 0.16; 0.03; 0.05; 0.16; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:5099460-5099746 Repeat_type_right : L2 Gap_right : . GC_content_right : 0.470 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4021 |
splitAnnotation_mode : split |
TMEM230Gene_name : TMEM230; LOEUF_bin : 8 GnomAD_pLI : 1.8056e-04 ExAC_pLI : 1.3820e-02 HI : . TS : . DDD_HI_percent : 36.62 ACMG : . ExAC_cnvZ : -0.324192381306669 ExAC_delZ : 0.232658514527564 ExAC_dupZ : -0.567378188878657 ExAC_synZ : 0.139871336005673 ExAC_misZ : 1.21188811838716 GenCC_disease : Parkinson disease GenCC_moi : sD GenCC_classification : Moderate GenCC_pmid : . NCBI_gene_ID : 29058 |
intron4-intron4Location : intron4-intron4 CytoBand : p13 Location2 : UTR Tx : XR_007067454 Tx_version : 1 Tx_start : 5059115 Tx_end : 5113076 Exon_count : 8 Overlapped_tx_length : 4021 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6819 Nearest_SS_type : 5' Intersect_start : 5095347 Intersect_end : 5099368 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 1 |
fullAnnotation_mode : full |
CDC25BGene_name : CDC25B; LOEUF_bin : 2 GnomAD_pLI : 3.6430e-01 ExAC_pLI : 5.9073e-01 HI : . TS : . DDD_HI_percent : 32.24 ExAC_cnvZ : 0.363400516586885 ExAC_delZ : 0.945852107679768 ExAC_dupZ : -0.0127528103910442 ExAC_synZ : -0.234933631784881 ExAC_misZ : 1.70206841525193 Closest_left : CENPB Closest_right : LINC01730 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.02; 0.04; 0.12; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3804094-3804486 Repeat_type_left : L2 Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.495 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
CDC25BGene_name : CDC25B; LOEUF_bin : 2 GnomAD_pLI : 3.6430e-01 ExAC_pLI : 5.9073e-01 HI : . TS : . DDD_HI_percent : 32.24 ACMG : . ExAC_cnvZ : 0.363400516586885 ExAC_delZ : 0.945852107679768 ExAC_dupZ : -0.0127528103910442 ExAC_synZ : -0.234933631784881 ExAC_misZ : 1.70206841525193 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 994 |
intron14-exon16Location : intron14-exon16 CytoBand : p13 Location2 : CDS-3'UTR Tx : NM_001287516 Tx_version : 2 Tx_start : 3786950 Tx_end : 3806115 Exon_count : 16 Overlapped_tx_length : 1000 Overlapped_CDS_length : 253 Overlapped_CDS_percent : 16 Frameshift : yes Dist_nearest_SS : 302 Nearest_SS_type : 3' Intersect_start : 3804266 Intersect_end : 3805266 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
CDC25BGene_name : CDC25B; LOEUF_bin : 2 GnomAD_pLI : 3.6430e-01 ExAC_pLI : 5.9073e-01 HI : . TS : . DDD_HI_percent : 32.24 ExAC_cnvZ : 0.363400516586885 ExAC_delZ : 0.945852107679768 ExAC_dupZ : -0.0127528103910442 ExAC_synZ : -0.234933631784881 ExAC_misZ : 1.70206841525193 Closest_left : CENPB Closest_right : LINC01730 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.01; 0.02; 0.06; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3804094-3804486 Repeat_type_left : L2 Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.625 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
CDC25BGene_name : CDC25B; LOEUF_bin : 2 GnomAD_pLI : 3.6430e-01 ExAC_pLI : 5.9073e-01 HI : . TS : . DDD_HI_percent : 32.24 ACMG : . ExAC_cnvZ : 0.363400516586885 ExAC_delZ : 0.945852107679768 ExAC_dupZ : -0.0127528103910442 ExAC_synZ : -0.234933631784881 ExAC_misZ : 1.70206841525193 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 994 |
intron14-intron15Location : intron14-intron15 CytoBand : p13 Location2 : CDS Tx : NM_001287516 Tx_version : 2 Tx_start : 3786950 Tx_end : 3806115 Exon_count : 16 Overlapped_tx_length : 500 Overlapped_CDS_length : 112 Overlapped_CDS_percent : 7 Frameshift : yes Dist_nearest_SS : 54 Nearest_SS_type : 3' Intersect_start : 3804266 Intersect_end : 3804766 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2769 Gene_count : 1 |
fullAnnotation_mode : full |
CDC25BGene_name : CDC25B; LOEUF_bin : 2 GnomAD_pLI : 3.6430e-01 ExAC_pLI : 5.9073e-01 HI : . TS : . DDD_HI_percent : 32.24 ExAC_cnvZ : 0.363400516586885 ExAC_delZ : 0.945852107679768 ExAC_dupZ : -0.0127528103910442 ExAC_synZ : -0.234933631784881 ExAC_misZ : 1.70206841525193 Closest_left : CENPB Closest_right : LINC01730 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.05; 0.11; 0.33; 0.02; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.550 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.495 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2769 |
splitAnnotation_mode : split |
CDC25BGene_name : CDC25B; LOEUF_bin : 2 GnomAD_pLI : 3.6430e-01 ExAC_pLI : 5.9073e-01 HI : . TS : . DDD_HI_percent : 32.24 ACMG : . ExAC_cnvZ : 0.363400516586885 ExAC_delZ : 0.945852107679768 ExAC_dupZ : -0.0127528103910442 ExAC_synZ : -0.234933631784881 ExAC_misZ : 1.70206841525193 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 994 |
intron11-exon16Location : intron11-exon16 CytoBand : p13 Location2 : CDS-3'UTR Tx : NM_001287516 Tx_version : 2 Tx_start : 3786950 Tx_end : 3806115 Exon_count : 16 Overlapped_tx_length : 2769 Overlapped_CDS_length : 549 Overlapped_CDS_percent : 35 Frameshift : no Dist_nearest_SS : 121 Nearest_SS_type : 5' Intersect_start : 3802497 Intersect_end : 3805266 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1587 Gene_count : 1 |
fullAnnotation_mode : full |
ADAM33Gene_name : ADAM33; LOEUF_bin : 5 GnomAD_pLI : 2.1487e-15 ExAC_pLI : 1.3126e-11 HI : . TS : . DDD_HI_percent : 73.4 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.542544433311342 ExAC_synZ : 2.09506224906933 ExAC_misZ : 0.766348201860749 Closest_left : GFRA4 Closest_right : SIGLEC1 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.03; 0.06; 0.19; 0.01; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3673003-3673044 Repeat_type_left : MIR3 Gap_left : . GC_content_left : 0.665 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.610 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1587 |
splitAnnotation_mode : split |
ADAM33Gene_name : ADAM33; LOEUF_bin : 5 GnomAD_pLI : 2.1487e-15 ExAC_pLI : 1.3126e-11 HI : . TS : . DDD_HI_percent : 73.4 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.542544433311342 ExAC_synZ : 2.09506224906933 ExAC_misZ : 0.766348201860749 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80332 |
exon6-exon11Location : exon6-exon11 CytoBand : p13 Location2 : CDS-3'UTR Tx : XM_017028082 Tx_version : 2 Tx_start : 3672804 Tx_end : 3682010 Exon_count : 11 Overlapped_tx_length : 1587 Overlapped_CDS_length : 761 Overlapped_CDS_percent : 58 Frameshift : yes Dist_nearest_SS : 92 Nearest_SS_type : 5' Intersect_start : 3673008 Intersect_end : 3674595 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 927 Gene_count : 1 |
fullAnnotation_mode : full |
ADAM33Gene_name : ADAM33; LOEUF_bin : 5 GnomAD_pLI : 2.1487e-15 ExAC_pLI : 1.3126e-11 HI : . TS : . DDD_HI_percent : 73.4 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.542544433311342 ExAC_synZ : 2.09506224906933 ExAC_misZ : 0.766348201860749 Closest_left : GFRA4 Closest_right : SIGLEC1 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.02; 0.04; 0.11; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3673003-3673044 Repeat_type_left : MIR3 Gap_left : . GC_content_left : 0.665 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.715 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 927 |
splitAnnotation_mode : split |
ADAM33Gene_name : ADAM33; LOEUF_bin : 5 GnomAD_pLI : 2.1487e-15 ExAC_pLI : 1.3126e-11 HI : . TS : . DDD_HI_percent : 73.4 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.542544433311342 ExAC_synZ : 2.09506224906933 ExAC_misZ : 0.766348201860749 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80332 |
intron8-exon11Location : intron8-exon11 CytoBand : p13 Location2 : CDS-3'UTR Tx : XM_017028082 Tx_version : 2 Tx_start : 3672804 Tx_end : 3682010 Exon_count : 11 Overlapped_tx_length : 927 Overlapped_CDS_length : 531 Overlapped_CDS_percent : 40 Frameshift : no Dist_nearest_SS : 24 Nearest_SS_type : 3' Intersect_start : 3673008 Intersect_end : 3673935 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 28697 Gene_count : 1 |
fullAnnotation_mode : full |
ATRNGene_name : ATRN; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 24.22 ExAC_cnvZ : 0.240475621263564 ExAC_delZ : 1.01366924264747 ExAC_dupZ : -0.196332580213662 ExAC_synZ : 0.587733874438277 ExAC_misZ : 2.15130160113174 Closest_left : LOC105372509 Closest_right : GFRA4 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.50; 1.13; 3.41; 0.20; 0.33 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:3604004-3604077 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3576670-3576744 Repeat_type_left : (TATC)n Gap_left : . GC_content_left : 0.340 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3605139-3605925 Repeat_type_right : L1PA11 Gap_right : . GC_content_right : 0.360 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 28697 |
splitAnnotation_mode : split |
ATRNGene_name : ATRN; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 24.22 ACMG : . ExAC_cnvZ : 0.240475621263564 ExAC_delZ : 1.01366924264747 ExAC_dupZ : -0.196332580213662 ExAC_synZ : 0.587733874438277 ExAC_misZ : 2.15130160113174 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8455 |
intron13-intron24Location : intron13-intron24 CytoBand : p13 Location2 : CDS Tx : NM_001207047 Tx_version : 3 Tx_start : 3471017 Tx_end : 3616058 Exon_count : 25 Overlapped_tx_length : 28697 Overlapped_CDS_length : 1587 Overlapped_CDS_percent : 45 Frameshift : no Dist_nearest_SS : 86 Nearest_SS_type : 3' Intersect_start : 3576772 Intersect_end : 3605469 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 24640 Gene_count : 1 |
fullAnnotation_mode : full |
ATRNGene_name : ATRN; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 24.22 ExAC_cnvZ : 0.240475621263564 ExAC_delZ : 1.01366924264747 ExAC_dupZ : -0.196332580213662 ExAC_synZ : 0.587733874438277 ExAC_misZ : 2.15130160113174 Closest_left : LOC105372509 Closest_right : GFRA4 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.43; 0.97; 2.93; 0.18; 0.28 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:3515756-3516032 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3515239-3516373 Repeat_type_left : L2 Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.320 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 24640 |
splitAnnotation_mode : split |
ATRNGene_name : ATRN; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 24.22 ACMG : . ExAC_cnvZ : 0.240475621263564 ExAC_delZ : 1.01366924264747 ExAC_dupZ : -0.196332580213662 ExAC_synZ : 0.587733874438277 ExAC_misZ : 2.15130160113174 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8455 |
intron1-exon3Location : intron1-exon3 CytoBand : p13 Location2 : CDS Tx : NM_001207047 Tx_version : 3 Tx_start : 3471017 Tx_end : 3616058 Exon_count : 25 Overlapped_tx_length : 24640 Overlapped_CDS_length : 151 Overlapped_CDS_percent : 4 Frameshift : yes Dist_nearest_SS : 47 Nearest_SS_type : 5' Intersect_start : 3515648 Intersect_end : 3540288 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8401 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.15; 0.33; 1.00; 0.06; 0.10 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.370 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 8401 |
splitAnnotation_mode : split |
exon10-exon11Location : exon10-exon11 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 8401 Overlapped_CDS_length : 52 Overlapped_CDS_percent : 2 Frameshift : yes Dist_nearest_SS : 13 Nearest_SS_type : 5' Intersect_start : 3270523 Intersect_end : 3278924 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5002 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.09; 0.20; 0.60; 0.04; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.485 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 5002 |
splitAnnotation_mode : split |
intron10-exon11Location : intron10-exon11 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 5002 Overlapped_CDS_length : 39 Overlapped_CDS_percent : 2 Frameshift : no Dist_nearest_SS : 39 Nearest_SS_type : 3' Intersect_start : 3270523 Intersect_end : 3275525 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.01; 0.02; 0.06; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3270811-3271112 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.510 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
intron10-exon11Location : intron10-exon11 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 500 Overlapped_CDS_length : 39 Overlapped_CDS_percent : 2 Frameshift : no Dist_nearest_SS : 39 Nearest_SS_type : 3' Intersect_start : 3270523 Intersect_end : 3271023 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 45149 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/R[...]RE_gene : DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.79; 1.78; 5.37; 0.32; 0.52 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355 po_B_loss_someG_coord : chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3267940-3268017; 20:3268018-3268334 Repeat_type_left : L1MC4; AluSq2 Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.435 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 45149 |
splitAnnotation_mode : split |
intron20-intron30Location : intron20-intron30 CytoBand : p13 Location2 : CDS Tx : NM_001009984 Tx_version : 3 Tx_start : 3249305 Tx_end : 3407669 Exon_count : 37 Overlapped_tx_length : 45149 Overlapped_CDS_length : 1108 Overlapped_CDS_percent : 31 Frameshift : yes Dist_nearest_SS : 1857 Nearest_SS_type : 5' Intersect_start : 3268026 Intersect_end : 3313175 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 17309 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid[...]RE_gene : DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.30; 0.68; 2.06; 0.12; 0.20 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3281258-3281315 dbVar po_B_loss_someG_coord : chr20:3281257-3281315 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3267940-3268017; 20:3268018-3268334 Repeat_type_left : L1MC4; AluSq2 Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3285266-3285389; 20:3285399-3285695 Repeat_type_right : FLAM_C; AluSz Gap_right : . GC_content_right : 0.520 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 17309 |
splitAnnotation_mode : split |
intron8-intron11Location : intron8-intron11 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 17309 Overlapped_CDS_length : 300 Overlapped_CDS_percent : 16 Frameshift : no Dist_nearest_SS : 2296 Nearest_SS_type : 5' Intersect_start : 3268026 Intersect_end : 3285335 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 10898 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); NOP56 (morbid/R[...]RE_gene : ITPA (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.19; 0.43; 1.30; 0.08; 0.13 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3267940-3268017; 20:3268018-3268334 Repeat_type_left : L1MC4; AluSq2 Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.370 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 10898 |
splitAnnotation_mode : split |
exon10-intron11Location : exon10-intron11 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 10898 Overlapped_CDS_length : 149 Overlapped_CDS_percent : 8 Frameshift : yes Dist_nearest_SS : 13 Nearest_SS_type : 5' Intersect_start : 3268026 Intersect_end : 3278924 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 7499 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/[...]RE_gene : NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.13; 0.29; 0.89; 0.05; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3267940-3268017; 20:3268018-3268334 Repeat_type_left : L1MC4; AluSq2 Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.485 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 7499 |
splitAnnotation_mode : split |
intron10-intron11Location : intron10-intron11 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 7499 Overlapped_CDS_length : 136 Overlapped_CDS_percent : 7 Frameshift : yes Dist_nearest_SS : 2400 Nearest_SS_type : 5' Intersect_start : 3268026 Intersect_end : 3275525 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2997 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.05; 0.12; 0.36; 0.02; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3267940-3268017; 20:3268018-3268334 Repeat_type_left : L1MC4; AluSq2 Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3270811-3271112 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.510 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 2997 |
splitAnnotation_mode : split |
intron10-intron11Location : intron10-intron11 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 2997 Overlapped_CDS_length : 136 Overlapped_CDS_percent : 7 Frameshift : yes Dist_nearest_SS : 461 Nearest_SS_type : 3' Intersect_start : 3268026 Intersect_end : 3271023 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8988 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.16; 0.35; 1.07; 0.06; 0.10 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:3255778-3262828 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3270811-3271112 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.510 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 8988 |
splitAnnotation_mode : split |
intron10-intron12Location : intron10-intron12 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 8988 Overlapped_CDS_length : 223 Overlapped_CDS_percent : 12 Frameshift : yes Dist_nearest_SS : 461 Nearest_SS_type : 3' Intersect_start : 3262035 Intersect_end : 3271023 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 104016 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); AVP (morbid/RE=[...]RE_gene : ITPA (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 1.82; 4.09; 12.37; 0.74; 1.20 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar; chr20:3317789-3331870 dbVar; chr20:3359940-3360033 dbVar po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355; chr20:3341368-3368662 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.585 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3362947-3363248; 20:3363249-3363316; 20:3363318-3363491 Repeat_type_right : AluSx; HAL1; AluSx Gap_right : . GC_content_right : 0.415 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 104016 |
splitAnnotation_mode : split |
intron6-intron33Location : intron6-intron33 CytoBand : p13 Location2 : CDS Tx : NM_001009984 Tx_version : 3 Tx_start : 3249305 Tx_end : 3407669 Exon_count : 37 Overlapped_tx_length : 104016 Overlapped_CDS_length : 2443 Overlapped_CDS_percent : 69 Frameshift : yes Dist_nearest_SS : 173 Nearest_SS_type : 5' Intersect_start : 3259306 Intersect_end : 3363322 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 70114 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/[...]RE_gene : IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 1.23; 2.76; 8.34; 0.50; 0.81 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar; chr20:3317789-3331870 dbVar po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.585 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3329181-3329456; 20:3329457-3329472 Repeat_type_right : AluJb; (ATAC)n Gap_right : . GC_content_right : 0.490 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 70114 |
splitAnnotation_mode : split |
intron12-intron33Location : intron12-intron33 CytoBand : p13 Location2 : CDS Tx : NM_001009984 Tx_version : 3 Tx_start : 3249305 Tx_end : 3407669 Exon_count : 37 Overlapped_tx_length : 70114 Overlapped_CDS_length : 1955 Overlapped_CDS_percent : 55 Frameshift : yes Dist_nearest_SS : 173 Nearest_SS_type : 5' Intersect_start : 3259306 Intersect_end : 3329420 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 53869 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.94; 2.12; 6.41; 0.38; 0.62 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar; po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.585 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.435 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 53869 |
splitAnnotation_mode : split |
intron20-intron33Location : intron20-intron33 CytoBand : p13 Location2 : CDS Tx : NM_001009984 Tx_version : 3 Tx_start : 3249305 Tx_end : 3407669 Exon_count : 37 Overlapped_tx_length : 53869 Overlapped_CDS_length : 1377 Overlapped_CDS_percent : 38 Frameshift : no Dist_nearest_SS : 173 Nearest_SS_type : 5' Intersect_start : 3259306 Intersect_end : 3313175 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 26029 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); AVP (morbid/RE=[...]RE_gene : ITPA (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.45; 1.02; 3.10; 0.19; 0.30 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3281257-3281315 dbVar; po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; chr20:3281258-3281315 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.585 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3285266-3285389; 20:3285399-3285695 Repeat_type_right : FLAM_C; AluSz Gap_right : . GC_content_right : 0.520 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 26029 |
splitAnnotation_mode : split |
intron8-intron14Location : intron8-intron14 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 26029 Overlapped_CDS_length : 569 Overlapped_CDS_percent : 31 Frameshift : yes Dist_nearest_SS : 173 Nearest_SS_type : 5' Intersect_start : 3259306 Intersect_end : 3285335 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 19618 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/[...]RE_gene : NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.34; 0.77; 2.33; 0.14; 0.23 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3255778-3262828 dbVar po_B_loss_someG_coord : chr20:3255778-3262828 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.585 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.370 |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 19618 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.34; 0.77; 2.33; 0.14; 0.23 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3255778-3262828 dbVar po_B_loss_someG_coord : chr20:3255778-3262828 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.585 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.370 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 19618 |
splitAnnotation_mode : split |
exon10-intron14Location : exon10-intron14 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 19618 Overlapped_CDS_length : 418 Overlapped_CDS_percent : 23 Frameshift : yes Dist_nearest_SS : 13 Nearest_SS_type : 5' Intersect_start : 3259306 Intersect_end : 3278924 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 19618 |
splitAnnotation_mode : split |
exon10-intron14Location : exon10-intron14 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 19618 Overlapped_CDS_length : 418 Overlapped_CDS_percent : 23 Frameshift : yes Dist_nearest_SS : 13 Nearest_SS_type : 5' Intersect_start : 3259306 Intersect_end : 3278924 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11717 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/R[...]RE_gene : AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.20; 0.46; 1.39; 0.08; 0.14 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:3255778-3262828 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.585 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3270811-3271112 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.510 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 11717 |
splitAnnotation_mode : split |
intron10-intron14Location : intron10-intron14 CytoBand : p13 Location2 : CDS Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 11717 Overlapped_CDS_length : 405 Overlapped_CDS_percent : 22 Frameshift : no Dist_nearest_SS : 173 Nearest_SS_type : 5' Intersect_start : 3259306 Intersect_end : 3271023 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 28103 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); NOP56 (morbid/R[...]RE_gene : ITPA (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.49; 1.11; 3.34; 0.20; 0.32 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.425 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.370 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 28103 |
splitAnnotation_mode : split |
exon10-exon18Location : exon10-exon18 CytoBand : p13 Location2 : CDS-3'UTR Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 28103 Overlapped_CDS_length : 897 Overlapped_CDS_percent : 50 Frameshift : no Dist_nearest_SS : 13 Nearest_SS_type : 5' Intersect_start : 3250821 Intersect_end : 3278924 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 20202 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.35; 0.79; 2.40; 0.14; 0.23 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.425 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3270811-3271112 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.510 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 20202 |
splitAnnotation_mode : split |
intron10-exon18Location : intron10-exon18 CytoBand : p13 Location2 : CDS-3'UTR Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 20202 Overlapped_CDS_length : 884 Overlapped_CDS_percent : 49 Frameshift : yes Dist_nearest_SS : 461 Nearest_SS_type : 3' Intersect_start : 3250821 Intersect_end : 3271023 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 39050 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.68; 1.54; 4.65; 0.28; 0.45 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318; po_B_loss_someG_coord : chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3239890-3239935 Repeat_type_left : (CCCCTTT)n Gap_left : . GC_content_left : 0.635 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.370 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 39050 |
splitAnnotation_mode : split |
exon10-txEndLocation : exon10-txEnd CytoBand : p13 Location2 : CDS-3'UTR Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 29619 Overlapped_CDS_length : 897 Overlapped_CDS_percent : 50 Frameshift : no Dist_nearest_SS : 13 Nearest_SS_type : 5' Intersect_start : 3249305 Intersect_end : 3278924 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 31149 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/R[...]RE_gene : ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735 po_P_loss_percent : 0.54; 1.23; 3.71; 0.22; 0.36 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318; po_B_loss_someG_coord : chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3239890-3239935 Repeat_type_left : (CCCCTTT)n Gap_left : . GC_content_left : 0.635 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3270811-3271112 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.510 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 31149 |
splitAnnotation_mode : split |
intron10-txEndLocation : intron10-txEnd CytoBand : p13 Location2 : CDS-3'UTR Tx : XM_005260687 Tx_version : 6 Tx_start : 3249305 Tx_end : 3307201 Exon_count : 18 Overlapped_tx_length : 21718 Overlapped_CDS_length : 884 Overlapped_CDS_percent : 49 Frameshift : yes Dist_nearest_SS : 461 Nearest_SS_type : 3' Intersect_start : 3249305 Intersect_end : 3271023 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4497 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105372507Gene_name : LOC105372507; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : IDH3B-DT Closest_right : EBF4 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425 po_P_loss_coord : 20:2482456-8205033 po_P_loss_percent : 0.08 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:2685851-2685934; 20:2685925-2686038 Repeat_type_left : Arthur1C; Arthur1B Gap_left : . GC_content_left : 0.450 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.570 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4497 |
splitAnnotation_mode : split |
LOC105372507Gene_name : LOC105372507; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : p13 Location2 : UTR Tx : XR_937210 Tx_version : 3 Tx_start : 2670276 Tx_end : 2692620 Exon_count : 3 Overlapped_tx_length : 4497 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 871 Nearest_SS_type : 5' Intersect_start : 2685971 Intersect_end : 2690468 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 858 Gene_count : 1 |
fullAnnotation_mode : full |
LOC107985409Gene_name : LOC107985409; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SIRPD Closest_right : SIRPB1 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572 po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966 po_P_loss_percent : 0.05; 0.05; 0.05; 0.04; 0.04; 0.05; 0.05; 0.05; 0.04; 0.04; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.565 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:1559450-1559605; 20:1559606-1560134 Repeat_type_right : L2; LTR45C Gap_right : . GC_content_right : 0.435 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 858 |
splitAnnotation_mode : split |
LOC107985409Gene_name : LOC107985409; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : p13 Location2 : UTR Tx : XR_007067492 Tx_version : 1 Tx_start : 1558006 Tx_end : 1561537 Exon_count : 4 Overlapped_tx_length : 858 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 311 Nearest_SS_type : 5' Intersect_start : 1558732 Intersect_end : 1559590 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 692 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105372499Gene_name : LOC105372499; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SIRPB2 Closest_right : LOC105372498 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572 po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966 po_P_loss_percent : 0.04; 0.04; 0.04; 0.04; 0.03; 0.04; 0.04; 0.04; 0.03; 0.03; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:1514581-1515265 Repeat_type_left : L1ME3F Gap_left : . GC_content_left : 0.335 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:1514581-1515265 Repeat_type_right : L1ME3F Gap_right : . GC_content_right : 0.465 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 692 |
splitAnnotation_mode : split |
LOC105372499Gene_name : LOC105372499; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : p13 Location2 : UTR Tx : XR_001754464 Tx_version : 2 Tx_start : 1512560 Tx_end : 1550193 Exon_count : 4 Overlapped_tx_length : 692 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1136 Nearest_SS_type : 5' Intersect_start : 1514645 Intersect_end : 1515337 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3229 Gene_count : 1 |
fullAnnotation_mode : full |
NSFL1CGene_name : NSFL1C; LOEUF_bin : 3 GnomAD_pLI : 4.9492e-02 ExAC_pLI : 1.5936e-01 HI : . TS : . DDD_HI_percent : 32.36 ExAC_cnvZ : 0.432106698788576 ExAC_delZ : 1.24447787758637 ExAC_dupZ : -0.0425980585533429 ExAC_synZ : 0.782422922884333 ExAC_misZ : 1.4972246410269 Closest_left : LOC105372497 Closest_right : SIRPB2 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572 po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966 po_P_loss_percent : 0.20; 0.19; 0.18; 0.17; 0.15; 0.23; 0.19; 0.18; 0.17; 0.16; 0.15; 0.17 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:1457307-1457960 Repeat_type_left : L1MA7 Gap_left : . GC_content_left : 0.350 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:1460944-1461098 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.485 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 3229 |
splitAnnotation_mode : split |
NSFL1CGene_name : NSFL1C; LOEUF_bin : 3 GnomAD_pLI : 4.9492e-02 ExAC_pLI : 1.5936e-01 HI : . TS : . DDD_HI_percent : 32.36 ACMG : . ExAC_cnvZ : 0.432106698788576 ExAC_delZ : 1.24447787758637 ExAC_dupZ : -0.0425980585533429 ExAC_synZ : 0.782422922884333 ExAC_misZ : 1.4972246410269 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55968 |
exon1-intron2Location : exon1-intron2 CytoBand : p13 Location2 : 5'UTR-CDS Tx : XM_017027956 Tx_version : 2 Tx_start : 1442165 Tx_end : 1463314 Exon_count : 8 Overlapped_tx_length : 3229 Overlapped_CDS_length : 128 Overlapped_CDS_percent : 13 Frameshift : yes Dist_nearest_SS : 56 Nearest_SS_type : 5' Intersect_start : 1457731 Intersect_end : 1460960 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4478 Gene_count : 1 |
fullAnnotation_mode : full |
NSFL1CGene_name : NSFL1C; LOEUF_bin : 3 GnomAD_pLI : 4.9492e-02 ExAC_pLI : 1.5936e-01 HI : . TS : . DDD_HI_percent : 32.36 ExAC_cnvZ : 0.432106698788576 ExAC_delZ : 1.24447787758637 ExAC_dupZ : -0.0425980585533429 ExAC_synZ : 0.782422922884333 ExAC_misZ : 1.4972246410269 Closest_left : LOC105372497 Closest_right : SIRPB2 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572 po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966 po_P_loss_percent : 0.28; 0.26; 0.25; 0.23; 0.20; 0.32; 0.27; 0.25; 0.24; 0.22; 0.21; 0.23 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.405 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:1460944-1461098 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.485 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 4478 |
splitAnnotation_mode : split |
NSFL1CGene_name : NSFL1C; LOEUF_bin : 3 GnomAD_pLI : 4.9492e-02 ExAC_pLI : 1.5936e-01 HI : . TS : . DDD_HI_percent : 32.36 ACMG : . ExAC_cnvZ : 0.432106698788576 ExAC_delZ : 1.24447787758637 ExAC_dupZ : -0.0425980585533429 ExAC_synZ : 0.782422922884333 ExAC_misZ : 1.4972246410269 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55968 |
exon1-intron2Location : exon1-intron2 CytoBand : p13 Location2 : 5'UTR-CDS Tx : XM_017027956 Tx_version : 2 Tx_start : 1442165 Tx_end : 1463314 Exon_count : 8 Overlapped_tx_length : 4478 Overlapped_CDS_length : 128 Overlapped_CDS_percent : 13 Frameshift : yes Dist_nearest_SS : 56 Nearest_SS_type : 5' Intersect_start : 1456482 Intersect_end : 1460960 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 13847 Gene_count : 1 |
fullAnnotation_mode : full |
NSFL1CGene_name : NSFL1C; LOEUF_bin : 3 GnomAD_pLI : 4.9492e-02 ExAC_pLI : 1.5936e-01 HI : . TS : . DDD_HI_percent : 32.36 ExAC_cnvZ : 0.432106698788576 ExAC_delZ : 1.24447787758637 ExAC_dupZ : -0.0425980585533429 ExAC_synZ : 0.782422922884333 ExAC_misZ : 1.4972246410269 Closest_left : LOC105372497 Closest_right : SIRPB2 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572 po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966 po_P_loss_percent : 0.87; 0.80; 0.79; 0.71; 0.63; 0.99; 0.82; 0.79; 0.75; 0.67; 0.64; 0.71 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:1460944-1461098 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.485 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 13847 |
splitAnnotation_mode : split |
NSFL1CGene_name : NSFL1C; LOEUF_bin : 3 GnomAD_pLI : 4.9492e-02 ExAC_pLI : 1.5936e-01 HI : . TS : . DDD_HI_percent : 32.36 ACMG : . ExAC_cnvZ : 0.432106698788576 ExAC_delZ : 1.24447787758637 ExAC_dupZ : -0.0425980585533429 ExAC_synZ : 0.782422922884333 ExAC_misZ : 1.4972246410269 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55968 |
exon1-intron7Location : exon1-intron7 CytoBand : p13 Location2 : 5'UTR-CDS Tx : XM_011529302 Tx_version : 3 Tx_start : 1442165 Tx_end : 1463315 Exon_count : 9 Overlapped_tx_length : 13847 Overlapped_CDS_length : 641 Overlapped_CDS_percent : 66 Frameshift : yes Dist_nearest_SS : 56 Nearest_SS_type : 5' Intersect_start : 1447113 Intersect_end : 1460960 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
PSMF1Gene_name : PSMF1; LOEUF_bin : 8 GnomAD_pLI : 3.3092e-08 ExAC_pLI : 1.4758e-04 HI : . TS : . DDD_HI_percent : 36.61 ExAC_cnvZ : -0.0528609982200198 ExAC_delZ : 0.735051821765595 ExAC_dupZ : -0.434111525688013 ExAC_synZ : 1.40879015409943 ExAC_misZ : -0.746506510611992 Closest_left : LOC105372493 Closest_right : LOC124904855 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136580; dbVar:nssv15137933; dbVar:nssv16208563; dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15132066; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572 po_P_loss_coord : 20:80094-1246766; 20:80107-1246891; 20:80928-1325327; 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1360110; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966 po_P_loss_percent : 0.04; 0.04; 0.04; 0.03; 0.03; 0.03; 0.03; 0.02; 0.04; 0.04; 0.03; 0.03; 0.03; 0.02; 0.02; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:1146682-1146877 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.370 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
PSMF1Gene_name : PSMF1; LOEUF_bin : 8 GnomAD_pLI : 3.3092e-08 ExAC_pLI : 1.4758e-04 HI : . TS : . DDD_HI_percent : 36.61 ACMG : . ExAC_cnvZ : -0.0528609982200198 ExAC_delZ : 0.735051821765595 ExAC_dupZ : -0.434111525688013 ExAC_synZ : 1.40879015409943 ExAC_misZ : -0.746506510611992 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9491 |
intron4-intron4Location : intron4-intron4 CytoBand : p13 Location2 : CDS Tx : NM_001323407 Tx_version : 2 Tx_start : 1113262 Tx_end : 1172246 Exon_count : 7 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 11115 Nearest_SS_type : 5' Intersect_start : 1146421 Intersect_end : 1146921 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 1 |
fullAnnotation_mode : full |
PSMF1Gene_name : PSMF1; LOEUF_bin : 8 GnomAD_pLI : 3.3092e-08 ExAC_pLI : 1.4758e-04 HI : . TS : . DDD_HI_percent : 36.61 ExAC_cnvZ : -0.0528609982200198 ExAC_delZ : 0.735051821765595 ExAC_dupZ : -0.434111525688013 ExAC_synZ : 1.40879015409943 ExAC_misZ : -0.746506510611992 Closest_left : LOC105372493 Closest_right : LOC124904855 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136580; dbVar:nssv15137933; dbVar:nssv16208563; dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15132066; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572 po_P_loss_coord : 20:80094-1246766; 20:80107-1246891; 20:80928-1325327; 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1360110; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966 po_P_loss_percent : 0.09; 0.09; 0.08; 0.06; 0.06; 0.06; 0.05; 0.05; 0.08; 0.07; 0.06; 0.06; 0.05; 0.05; 0.05; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.450 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:1146682-1146877 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.370 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
PSMF1Gene_name : PSMF1; LOEUF_bin : 8 GnomAD_pLI : 3.3092e-08 ExAC_pLI : 1.4758e-04 HI : . TS : . DDD_HI_percent : 36.61 ACMG : . ExAC_cnvZ : -0.0528609982200198 ExAC_delZ : 0.735051821765595 ExAC_dupZ : -0.434111525688013 ExAC_synZ : 1.40879015409943 ExAC_misZ : -0.746506510611992 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9491 |
intron4-intron4Location : intron4-intron4 CytoBand : p13 Location2 : CDS Tx : NM_001323407 Tx_version : 2 Tx_start : 1113262 Tx_end : 1172246 Exon_count : 7 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 10615 Nearest_SS_type : 5' Intersect_start : 1145921 Intersect_end : 1146921 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1819 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02970 Closest_right : LOC124904948 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202 po_P_loss_percent : 0.10; 0.13; 0.10; 0.11; 0.11; 0.11; 0.11; 0.11 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62606581-62606638 Repeat_type_left : A-rich Gap_left : . GC_content_left : 0.620 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62608216-62608530; 20:62608531-62608836 Repeat_type_right : L1MD3; AluSq2 Gap_right : . GC_content_right : 0.490 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2319 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02970 Closest_right : LOC124904948 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202 po_P_loss_percent : 0.12; 0.17; 0.13; 0.15; 0.14; 0.13; 0.14; 0.14 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62606580-62606602 HPRC:pbsv.DEL.5224 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.480 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62608216-62608530; 20:62608531-62608836 Repeat_type_right : L1MD3; AluSq2 Gap_right : . GC_content_right : 0.490 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 995 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR133A2 Closest_right : LINC02970 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321 po_P_loss_percent : 0.05; 0.07; 0.05; 0.06; 0.06; 0.06; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62571685-62571719 Repeat_type_left : (CCCTT)n Gap_left : . GC_content_left : 0.590 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62572082-62572617 Repeat_type_right : L1MC5 Gap_right : . GC_content_right : 0.540 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4399 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR133A2 Closest_right : LINC02970 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
OSBPL2 (morbid/RE=EA_enhancer); COL9A3 (morbi[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321 po_P_loss_percent : 0.24; 0.32; 0.24; 0.28; 0.26; 0.25; 0.26 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:62574396-62575647 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62570948-62571418 Repeat_type_left : (AC)n Gap_left : . GC_content_left : 0.595 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.575 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2874 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR133A2 Closest_right : LINC02970 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morb[...]RE_gene : SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321 po_P_loss_percent : 0.15; 0.21; 0.16; 0.18; 0.17; 0.17; 0.17 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62570948-62571418 Repeat_type_left : (AC)n Gap_left : . GC_content_left : 0.595 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62574164-62574300; 20:62574314-62574497 Repeat_type_right : MLT1K; GA-rich Gap_right : . GC_content_right : 0.530 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372711 Closest_right : LOC124904947 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983 po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639 po_P_loss_percent : 0.05; 0.07; 0.06; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.670 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62493897-62494350; 20:62494385-62494548 Repeat_type_right : MLT1D; MIRb Gap_right : . GC_content_right : 0.505 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 9599 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:61045957-61046032 HPRC:pbsv.DEL.4719; chr20:61045964-61046114 HPRC:pbsv.DEL.4720; po_B_loss_someG_coord : 20:61045957-61046032 CMRI:1_pbsv.DEL.784_duplicate7; 20:61045964-61046114 CMRI:0_pbsv.DEL.815_duplicate6; 20:61045965-61046114 esv2659648 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.585 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:61050048-61050593 Repeat_type_right : L3 Gap_right : . GC_content_right : 0.420 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1026 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.585 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.625 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 10642 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:60931394-60936066 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60927246-60927721 Repeat_type_left : L1MC3 Gap_left : . GC_content_left : 0.275 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60937893-60937918 Repeat_type_right : (A)n Gap_right : . GC_content_right : 0.480 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 16442 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:60931394-60936066 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.550 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60937893-60937918 Repeat_type_right : (A)n Gap_right : . GC_content_right : 0.480 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 7225 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.550 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.540 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 918 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.550 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.470 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 24384 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:60931394-60936066 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.430 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60937893-60937918 Repeat_type_right : (A)n Gap_right : . GC_content_right : 0.480 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5994 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:60899375-60908586 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60910366-60910545; 20:60910549-60910999 Repeat_type_right : MLT1B; MLT1C Gap_right : . GC_content_right : 0.475 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1414 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.345 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60898715-60899009; 20:60899010-60899337 Repeat_type_right : AluJb; L1ME4c Gap_right : . GC_content_right : 0.415 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6206 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : 20:60895478-60895555 CMRI:3_pbsv.DEL.1306_duplicate5 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60889604-60890048 Repeat_type_left : L2b Gap_left : . GC_content_left : 0.550 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60895400-60895699; 20:60895700-60895747; 20:60895748-60896096 Repeat_type_right : (TGA)n; (ATGGTG)n; (TGA)n Gap_right : . GC_content_right : 0.410 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3083 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60889604-60890048 Repeat_type_left : L2b Gap_left : . GC_content_left : 0.550 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60892707-60893169 Repeat_type_right : MLT1D Gap_right : . GC_content_right : 0.445 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5714 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469 Repeat_type_left : MER5B; LTR84a Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60887433-60887913; 20:60887921-60888224 Repeat_type_right : L1ME3Cz; AluY Gap_right : . GC_content_right : 0.445 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3170 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR548AG2 Closest_right : LOC105372699 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60737171-60737554; 20:60737555-60738173 Repeat_type_left : MSTA; L1ME3A Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60739780-60741247 Repeat_type_right : L1MB7 Gap_right : . GC_content_right : 0.340 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1893 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR548AG2 Closest_right : LOC105372699 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60737171-60737554; 20:60737555-60738173 Repeat_type_left : MSTA; L1ME3A Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60739151-60739774 Repeat_type_right : L1ME1 Gap_right : . GC_content_right : 0.310 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6750 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR548AG2 Closest_right : LOC105372699 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.470 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60739780-60741247 Repeat_type_right : L1MB7 Gap_right : . GC_content_right : 0.340 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 272 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR548AG2 Closest_right : LOC105372699 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.470 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60734104-60734266 Repeat_type_right : MER5A1 Gap_right : . GC_content_right : 0.555 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4118 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR548AG2 Closest_right : LOC105372699 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60707562-60707996; 20:60708009-60708944 Repeat_type_left : Tigger1; L1PA3 Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60711132-60712830 Repeat_type_right : L1MC3 Gap_right : . GC_content_right : 0.275 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5877 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR548AG2 Closest_right : LOC105372699 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60705278-60706242; 20:60706252-60706486 Repeat_type_left : L1MC3; L1MC3 Gap_left : . GC_content_left : 0.315 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60711132-60712830 Repeat_type_right : L1MC3 Gap_right : . GC_content_right : 0.340 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3350 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR548AG2 Closest_right : LOC105372699 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60578418-60578681 Repeat_type_left : MER4D1 Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60581505-60582037 Repeat_type_right : MLT1F1 Gap_right : . GC_content_right : 0.525 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 594 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR548AG2 Closest_right : LOC105372699 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60578418-60578681 Repeat_type_left : MER4D1 Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60578682-60579142; 20:60579143-60579792 Repeat_type_right : LTR2; MER4D1 Gap_right : . GC_content_right : 0.475 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1697 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : VAPB Closest_right : APCDD1L |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58455287-58455685; 20:58455707-58455755 Repeat_type_left : HAL1; L2b Gap_left : . GC_content_left : 0.445 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.590 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 667 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : VAPB Closest_right : APCDD1L |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17969248 po_P_loss_coord : 20:56717150-59291310 po_P_loss_percent : 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58455287-58455685 Repeat_type_left : HAL1 Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58455942-58456235; 20:58456236-58456264; 20:58456334-58456401 Repeat_type_right : AluSc8; (T)n; MIR3 Gap_right : . GC_content_right : 0.420 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4843 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372683 Closest_right : LOC105372685 |
.Location : . CytoBand : q13.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248 po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310 po_P_loss_percent : 0.13; 0.19 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:57012323-57012824 HPRC:pbsv.DEL.4330; 20:57012324-57012824 esv2662836; chr20:57012329-57012824 gnomAD-SV_v3_DEL_chr20_58eefe8b; chr20:57012347-57012889 dbVar; 20:57012348-57012889 esv3646206; po_B_loss_someG_coord : 20:57012323-57012824 CMRI:2_pbsv.DEL.1025_duplicate10; 20:57012324-57012824 DDD:55085; chr20:57012329-57012824 dbVar; 20:57012330-57012824 IMH; 20:57012348-57012889 1000g; chr20:57012453-57012519 gnomAD-SV_v3_DEL_chr20_0acdc3ab |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.500 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:57014272-57014386 Repeat_type_right : L1ME4b Gap_right : . GC_content_right : 0.385 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 7386 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : TFAP2C Closest_right : LOC105372683 |
.Location : . CytoBand : q13.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248 po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310 po_P_loss_percent : 0.21; 0.29 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:56795832-56796141; 20:56796142-56796294 Repeat_type_left : AluSz; L2b Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:56803524-56803827 Repeat_type_right : AluSz Gap_right : . GC_content_right : 0.550 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2214 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : TFAP2C Closest_right : LOC105372683 |
.Location : . CytoBand : q13.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248 po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310 po_P_loss_percent : 0.06; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:56795832-56796141; 20:56796142-56796294 Repeat_type_left : AluSz; L2b Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:56798127-56798529 Repeat_type_right : L2c Gap_right : . GC_content_right : 0.420 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 10098 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : TFAP2C Closest_right : LOC105372683 |
.Location : . CytoBand : q13.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248 po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310 po_P_loss_percent : 0.28; 0.39 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:56794858-56795995 dbVar po_B_loss_someG_coord : chr20:56794736-56795934 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.510 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:56803524-56803827 Repeat_type_right : AluSz Gap_right : . GC_content_right : 0.550 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 67563 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : TFAP2C Closest_right : LOC105372683 |
.Location : . CytoBand : q13.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248 po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310 po_P_loss_percent : 1.88; 2.62 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:56732944-56737944 dbVar; chr20:56744794-56744935 dbVar; chr20:56744880-56744912 HPRC:pbsv.DEL.4311; chr20:56761591-56761644 dbVar; chr20:56769652-56778095 dbVar; 20:56782019-56782151 CMRI:2_pbsv.DEL.1021_duplicate11; 20:56782070-56782130 CMRI:3_pbsv.DEL.1180_duplicate6; chr20:56782070-56782130 dbVar; chr20:56784619-56789731 dbVar; chr20:56794736-56795934 dbVar; po_B_loss_someG_coord : chr20:56725113-56737922 dbVar; 20:56744671-56744888 CMRI:22_pbsv.DEL.1045_duplicate6; chr20:56744841-56744947 dbVar; 20:56761591-56761644 1000g; chr20:56765644-56771344 dbVar; chr20:56779924-56779998 dbVar; chr20:56782042-56782142 HPRC:pbsv.DEL.4314; chr20:56782070-56782130 HPRC:pbsv.DEL.4315; chr20:56782106-56782130 HPRC:pbsv.DEL.4317; chr20:56785162-56790060 dbVar; chr20:56794858-56795995 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:56735861-56735886; 20:56735924-56736220 Repeat_type_left : (CCCCCA)n; AluSz Gap_left : . GC_content_left : 0.560 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:56803524-56803827 Repeat_type_right : AluSz Gap_right : . GC_content_right : 0.550 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372678 Closest_right : CBLN4 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174 po_P_loss_coord : 20:54594889-58190583 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.425 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:55915345-55915418 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.420 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372678 Closest_right : CBLN4 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174 po_P_loss_coord : 20:54594889-58190583 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:55913456-55913767 Repeat_type_left : AluSx1 Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:55914285-55914511 Repeat_type_right : MIR Gap_right : . GC_content_right : 0.525 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8423 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372678 Closest_right : CBLN4 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174 po_P_loss_coord : 20:54594889-58190583 po_P_loss_percent : 0.23 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:55911834-55911906 HPRC:pbsv.DEL.4249 po_B_loss_someG_coord : 20:55911834-55911906 CMRI:3_pbsv.DEL.1153_duplicate5 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:55909959-55910164; 20:55910242-55910417 Repeat_type_left : MLT1D; MLT1D Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:55918569-55918767; 20:55918743-55918800 Repeat_type_right : MIRb; MIRb Gap_right : . GC_content_right : 0.345 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 21585 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372678 Closest_right : CBLN4 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174 po_P_loss_coord : 20:54594889-58190583 po_P_loss_percent : 0.60 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:55911834-55911906 HPRC:pbsv.DEL.4249; chr20:55925595-55925689 dbVar po_B_loss_someG_coord : 20:55911834-55911906 CMRI:3_pbsv.DEL.1153_duplicate5; chr20:55921777-55922246 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.375 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 864 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372678 Closest_right : CBLN4 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174 po_P_loss_coord : 20:54594889-58190583 po_P_loss_percent : 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:55909420-55909948 Repeat_type_right : L2b Gap_right : . GC_content_right : 0.340 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 12009 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372678 Closest_right : CBLN4 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174 po_P_loss_coord : 20:54594889-58190583 po_P_loss_percent : 0.33 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:55911834-55911906 HPRC:pbsv.DEL.4249 po_B_loss_someG_coord : 20:55911834-55911906 CMRI:3_pbsv.DEL.1153_duplicate5 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:55906403-55906692 Repeat_type_left : L1M5 Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:55918569-55918767; 20:55918743-55918800 Repeat_type_right : MIRb; MIRb Gap_right : . GC_content_right : 0.345 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 830 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : DOK5 Closest_right : LINC01441 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174 po_P_loss_coord : 20:54594889-58190583 po_P_loss_percent : 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:55099014-55099519; 20:55099532-55099998 Repeat_type_left : L1MD1; MLT1D Gap_left : . GC_content_left : 0.440 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:55100079-55100639 Repeat_type_right : MLT2B3 Gap_right : . GC_content_right : 0.555 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : DOK5 Closest_right : LINC01441 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174 po_P_loss_coord : 20:54594889-58190583 po_P_loss_percent : 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:55030108-55035149 Repeat_type_left : MER66-int Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:55030108-55035149 Repeat_type_right : MER66-int Gap_right : . GC_content_right : 0.395 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 14881 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : DOK5 Closest_right : LINC01441 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15122174 po_P_loss_coord : 20:54594889-58190583 po_P_loss_percent : 0.41 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:54943668-54944597; 20:54944602-54946289 Repeat_type_left : L1ME1; L1M4c Gap_left : . GC_content_left : 0.315 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:54958571-54959640; 20:54959639-54959861 Repeat_type_right : Tigger1; Tigger1 Gap_right : . GC_content_right : 0.420 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5168 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105376985 Closest_right : LOC105372668 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150235 po_P_loss_coord : 20:49011308-53428941 po_P_loss_percent : 0.12 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.405 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:52835660-52835768; 20:52835804-52835860; 20:52835868-52836151 Repeat_type_right : L2c; MER33; AluSq Gap_right : . GC_content_right : 0.485 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105376985 Closest_right : LOC105372668 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150235 po_P_loss_coord : 20:49011308-53428941 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.405 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:52831091-52831391 Repeat_type_right : AluJb Gap_right : . GC_content_right : 0.440 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : ZFP64 Closest_right : LOC105372666 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150235; dbVar:nssv15134928 po_P_loss_coord : 20:49011308-53428941; 20:50781991-52792847 po_P_loss_percent : 0.01; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:52194496-52194778 Repeat_type_left : AluSx Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:52194899-52195026; 20:52195055-52195307 Repeat_type_right : MER5A; MIR Gap_right : . GC_content_right : 0.445 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 477 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR3194 Closest_right : ATP9A |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150235; dbVar:nssv15150226; dbVar:nssv15134928 po_P_loss_coord : 20:49011308-53428941; 20:49109985-51811110; 20:50781991-52792847 po_P_loss_percent : 0.01; 0.02; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:51589521-51589831 Repeat_type_left : AluSx Gap_left : . GC_content_left : 0.540 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:51589843-51590125; 20:51590126-51590170; 20:51590194-51590264 Repeat_type_right : AluJr4; L1MB3; L2c Gap_right : . GC_content_right : 0.360 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 301 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372651 Closest_right : LOC124904926 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ZNFX1 (morbid/RE=EA_enhancer); RE_gene : ZNFX1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.01; 0.01; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49626500-49626972 Repeat_type_left : MER21A Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49626974-49627247; 20:49627249-49627369 Repeat_type_right : AluSz; MIR3 Gap_right : . GC_content_right : 0.515 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC107985439 Closest_right : LOC105372647 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881 po_P_loss_coord : 20:44356405-49982509 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 20:48484236-48521067; 20:48492453-48521067; 20:48492464-48520378 Repeat_coord_left : 20:48494260-48494309; 20:48494344-48494671 Repeat_type_left : U7; L2a Gap_left : . GC_content_left : 0.495 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:48484236-48521067; 20:48492453-48521067; 20:48492464-48520378 Repeat_coord_right : 20:48494344-48494671 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.555 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 969 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : WFDC12 Closest_right : LOC101929863 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509 po_P_loss_percent : 0.01; 0.01; 0.01; 0.04; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:45130959-45131442 Repeat_type_left : L1MB1 Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:45131947-45132117 Repeat_type_right : L1MC4 Gap_right : . GC_content_right : 0.320 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3584 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : WFDC12 Closest_right : LOC101929863 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509 po_P_loss_percent : 0.02; 0.03; 0.03; 0.15; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:45129166-45129476 Repeat_type_left : AluSz Gap_left : . GC_content_left : 0.380 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:45132121-45133785 Repeat_type_right : L1MA8 Gap_right : . GC_content_right : 0.365 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 255 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : RIMS4 Closest_right : YWHAB |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509 po_P_loss_percent : 0.00; 0.00; 0.00; 0.01; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:44839037-44839334 Repeat_type_left : AluSx Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:44839404-44839485 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.400 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 755 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : RIMS4 Closest_right : YWHAB |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509 po_P_loss_percent : 0.00; 0.01; 0.01; 0.03; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:44838382-44838829 Repeat_type_left : MLT1J Gap_left : . GC_content_left : 0.425 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:44839404-44839485 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.400 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372625 Closest_right : LOC124904907 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
HNF4A (morbid/RE=EA_enhancer); RE_gene : HNF4A (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118 po_P_loss_percent : 0.01; 0.01; 0.01; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:43847539-43852000 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43850488-43850788; 20:43850823-43850969 Repeat_type_left : AluSx1; L2c Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:43851918-43852230; 20:43852231-43852458 Repeat_type_right : AluYb8; L1MC4 Gap_right : . GC_content_right : 0.560 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 16805 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372625 Closest_right : LOC124904907 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
HNF4A (morbid/RE=EA_enhancer); RE_gene : HNF4A (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118 po_P_loss_percent : 0.11; 0.14; 0.14; 0.70 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:43839139-43844443 dbVar; chr20:43847539-43852000 dbVar po_B_loss_someG_coord : chr20:43836865-43841581 dbVar; chr20:43840265-43840331 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43835407-43835474 Repeat_type_left : MER5A Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:43851918-43852230; 20:43852231-43852458 Repeat_type_right : AluYb8; L1MC4 Gap_right : . GC_content_right : 0.560 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 4764 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124900461 Closest_right : SRSF6 |
.Location : . CytoBand : q13.11 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.03; 0.04; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:43378096-43378122 HPRC:pbsv.DEL.3291 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43374369-43374657; 20:43374777-43375097 Repeat_type_left : AluSq2; L1M6 Gap_left : . GC_content_left : 0.410 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:43379330-43379521; 20:43379561-43380020 Repeat_type_right : L3; MLT1H Gap_right : . GC_content_right : 0.305 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 34009 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.22; 0.27; 0.29 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:40944561-40944635 dbVar po_B_loss_someG_coord : chr20:40900119-40913267 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40909467-40911035 Repeat_type_left : LTR12C Gap_left : . GC_content_left : 0.690 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40944787-40945094 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.575 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 57283 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.37; 0.46; 0.48 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:40758890-40760417 dbVar; chr20:40776196-40776350 dbVar po_B_loss_someG_coord : chr20:40758639-40761519 dbVar; chr20:40758924-40760419 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40732950-40733639 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40790195-40790375 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.365 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 37846 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.25; 0.31; 0.32 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:40758890-40760417 dbVar; po_B_loss_someG_coord : chr20:40758639-40761519 dbVar; chr20:40758924-40760419 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40732950-40733639 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.605 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 24685 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.16; 0.20; 0.21 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40732950-40733639 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40757465-40757979 Repeat_type_right : MLT1F Gap_right : . GC_content_right : 0.510 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 15866 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.10; 0.13; 0.13 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40732950-40733639 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40748904-40749123 Repeat_type_right : MamRep564 Gap_right : . GC_content_right : 0.490 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11130 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.07; 0.09; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40732950-40733639 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40744015-40744081 Repeat_type_right : L2b Gap_right : . GC_content_right : 0.465 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6264 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.04; 0.05; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40732950-40733639 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.385 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2717 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.02; 0.02; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40732950-40733639 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.380 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40732950-40733639 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40732950-40733639 Repeat_type_right : L1M6 Gap_right : . GC_content_right : 0.345 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 8709 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.06; 0.07; 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40730200-40730687 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.305 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.385 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5162 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.03; 0.04; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40730200-40730687 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.305 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.380 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2945 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SNORD154 Closest_right : LOC100128988 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.02; 0.02; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:40730200-40730687 Repeat_type_left : L1M6 Gap_left : . GC_content_left : 0.305 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:40732950-40733639 Repeat_type_right : L1M6 Gap_right : . GC_content_right : 0.345 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 11413 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC102724950 Closest_right : LOC105372614 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.07; 0.09; 0.10 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:39748670-39748753 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:39740312-39742226 Repeat_type_left : L1PA2 Gap_left : . GC_content_left : 0.355 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:39752281-39752754 Repeat_type_right : LTR50 Gap_right : . GC_content_right : 0.455 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 22823 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC102724950 Closest_right : LOC105372614 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.15; 0.18; 0.19 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 20:39708990-39709127 CMRI:0_pbsv.DEL.522_duplicate10; 20:39708991-39709127 1000g; chr20:39709005-39709127 gnomAD-SV_v3_DEL_chr20_749d8b59; chr20:39721293-39721422 dbVar po_B_loss_someG_coord : chr20:39704716-39713672 dbVar; chr20:39708990-39709127 HPRC:pbsv.DEL.3103; chr20:39708991-39709127 dbVar; chr20:39721131-39726741 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:39727246-39727541 Repeat_type_right : MLT1J1 Gap_right : . GC_content_right : 0.405 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 852 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SRC Closest_right : BLCAP |
.Location : . CytoBand : q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.01; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:37464129-37464240 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.565 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:37465057-37465263 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.590 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6337 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904980 Closest_right : PHF20 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.04; 0.19; 0.05; 0.33 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35743262-35743397 Repeat_type_left : MIRc Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35749363-35749642; 20:35749737-35750040 Repeat_type_right : AluJr; AluSq Gap_right : . GC_content_right : 0.320 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 7597 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : C20orf173 Closest_right : ERGIC3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837 po_P_loss_percent : 0.05; 0.25; 0.22; 0.06; 1.65 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:35539312-35539335 HPRC:pbsv.DEL.2789 po_B_loss_someG_coord : chr20:35539287-35539335 HPRC:pbsv.DEL.2788 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35533168-35533462; 20:35533533-35533832 Repeat_type_left : AluSc; AluSx Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35540759-35541031 Repeat_type_right : L1MC5a Gap_right : . GC_content_right : 0.300 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 864 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : AHCY Closest_right : ITCH |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.01; 0.03; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:34327273-34328733 Repeat_type_left : L1PA6 Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.310 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1490 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : EIF2S2 Closest_right : ASIP |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.01; 0.05; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:34115867-34115991 Repeat_type_left : FLAM_C Gap_left : . GC_content_left : 0.400 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:34117328-34117745 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.360 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 15861 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : CHMP4B Closest_right : RALY-AS1 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.10; 0.51; 0.47 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:33961577-33970207 dbVar; chr20:33962901-33970061 dbVar; chr20:33964424-33966604 dbVar; po_B_loss_someG_coord : chr20:33961247-33961543 dbVar; chr20:33961587-33970304 dbVar; chr20:33963330-33963446 dbVar; chr20:33964446-33966614 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33954105-33954138; 20:33954139-33954449 Repeat_type_left : (TTTA)n; AluSz Gap_left : . GC_content_left : 0.380 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33969716-33969941 Repeat_type_right : Charlie8 Gap_right : . GC_content_right : 0.445 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 13445 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : C20orf203 Closest_right : COMMD7 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
POFUT1 (morbid/RE=EA_enhancer); DNMT3B (morbi[...]RE_gene : POFUT1 (morbid/RE=EA_enhancer); DNMT3B (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288 po_P_loss_percent : 0.09; 0.43 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:32688121-32688141 HPRC:pbsv.DEL.2590 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32691534-32691824 Repeat_type_right : AluSx3 Gap_right : . GC_content_right : 0.395 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3658 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : C20orf203 Closest_right : COMMD7 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
POFUT1 (morbid/RE=EA_enhancer); DNMT3B (morbi[...]RE_gene : POFUT1 (morbid/RE=EA_enhancer); DNMT3B (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288 po_P_loss_percent : 0.02; 0.12 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.570 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 383 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR1825 Closest_right : LOC124904885 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240 po_P_loss_coord : 20:32236739-47669019 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32245692-32246001; 20:32246005-32246303 Repeat_type_left : AluSz; AluSc Gap_left : . GC_content_left : 0.450 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32246304-32246460; 20:32246461-32246663 Repeat_type_right : AluJb; L2a Gap_right : . GC_content_right : 0.495 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2731 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR1825 Closest_right : LOC124904885 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240 po_P_loss_coord : 20:32236739-47669019 po_P_loss_percent : 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:32247651-32256085 dbVar po_B_loss_someG_coord : chr20:32247406-32248587 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32245340-32245655; 20:32245692-32246001 Repeat_type_left : AluSx; AluSz Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32248254-32248412; 20:32248413-32248705 Repeat_type_right : AluJr; AluSc Gap_right : . GC_content_right : 0.550 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1185 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR1825 Closest_right : LOC124904885 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240 po_P_loss_coord : 20:32236739-47669019 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32245340-32245655; 20:32245692-32246001 Repeat_type_left : AluSx; AluSz Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32246773-32246903; 20:32246908-32247179 Repeat_type_right : AluSx3; AluJb Gap_right : . GC_content_right : 0.510 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 738 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR1825 Closest_right : LOC124904885 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240 po_P_loss_coord : 20:32236739-47669019 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32245340-32245655; 20:32245692-32246001 Repeat_type_left : AluSx; AluSz Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32246304-32246460; 20:32246461-32246663 Repeat_type_right : AluJb; L2a Gap_right : . GC_content_right : 0.495 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : TPX2 Closest_right : MYLK2 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:31813971-31814048; 20:31814058-31814367 Repeat_type_left : MER5A; AluSz Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:31814058-31814367 Repeat_type_right : AluSz Gap_right : . GC_content_right : 0.420 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 6144 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904986 Closest_right : LOC124904970 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : 20:30761899-30811898 GC_content_left : 0.000 (200 N) |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : 20:30761899-30811898 GC_content_right : 0.000 (200 N) |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2975 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MLLT10P1 Closest_right : LOC105379481 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : 20:30425129-30456077 GC_content_left : 0.000 (200 N) |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : 20:30425129-30456077 GC_content_right : 0.000 (200 N) |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 5807 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904968 Closest_right : LINC01597 |
.Location : . CytoBand : q11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : 20:29893490-29894014 IMH |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:29884851-29900750 Repeat_type_left : ALR/Alpha Gap_left : . GC_content_left : 0.335 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:29884851-29900750 Repeat_type_right : ALR/Alpha Gap_right : . GC_content_right : 0.375 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904968 Closest_right : LINC01597 |
.Location : . CytoBand : q11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:29884851-29900750 Repeat_type_left : ALR/Alpha Gap_left : . GC_content_left : 0.335 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:29884851-29900750 Repeat_type_right : ALR/Alpha Gap_right : . GC_content_right : 0.390 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 10363 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : FAM242B Closest_right : LOC124904968 |
.Location : . CytoBand : q11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:29631246-29631338 HPRC:pbsv.DEL.2084 po_B_loss_someG_coord : 20:29631246-29631338 CMRI:11_pbsv.DEL.714_duplicate9 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475 Repeat_coord_left : 20:29623269-29625491 Repeat_type_left : L1PA5 Gap_left : . GC_content_left : 0.370 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475; 20:29631543-29667301 Repeat_coord_right : 20:29633964-29634067 Repeat_type_right : MLT1D Gap_right : . GC_content_right : 0.315 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3244 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : FAM242B Closest_right : LOC124904968 |
.Location : . CytoBand : q11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475 Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.355 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475 Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.310 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 22558 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : FAM242B Closest_right : LOC124904968 |
.Location : . CytoBand : q11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:29631246-29631338 HPRC:pbsv.DEL.2084 po_B_loss_someG_coord : 20:29631246-29631338 CMRI:11_pbsv.DEL.714_duplicate9 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475 Repeat_coord_left : 20:29610692-29612691 Repeat_type_left : L1ME3 Gap_left : . GC_content_left : 0.310 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475; 20:29631543-29667301 Repeat_coord_right : 20:29633964-29634067 Repeat_type_right : MLT1D Gap_right : . GC_content_right : 0.315 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 987 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC01431 Closest_right : GZF1 |
.Location : . CytoBand : p11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664; dbVar:nssv15131690 po_P_loss_coord : 20:18520274-25866684; 20:21699708-24402817 po_P_loss_percent : 0.01; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:23359722-23359875; 20:23359876-23360169 Repeat_type_left : AluSx1; AluSx Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:23360500-23361161 Repeat_type_right : MER67C Gap_right : . GC_content_right : 0.415 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1889 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372558 Closest_right : LOC112268271 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.01; 0.03; 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:21492846-21493090 Repeat_type_left : MIR Gap_left : . GC_content_left : 0.380 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:21493993-21494734 Repeat_type_right : L1MC4a Gap_right : . GC_content_right : 0.305 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2389 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372558 Closest_right : LOC112268271 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.02; 0.03; 0.08 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:21492288-21492470 Repeat_type_left : FAM Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:21493993-21494734 Repeat_type_right : L1MC4a Gap_right : . GC_content_right : 0.305 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : INSM1 Closest_right : RALGAPA2 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.00; 0.01; 0.01; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.575 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20373787-20373864 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.525 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3110 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372548 Closest_right : SNX5 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv18787965; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17607038-18187459; 20:17772772-21426789 po_P_loss_percent : 0.02; 0.54; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:17929144-17929296 Repeat_type_left : MER5A Gap_left : . GC_content_left : 0.560 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:17932128-17932500 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.425 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1510 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372548 Closest_right : SNX5 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv18787965; dbVar:nssv15134157 po_P_loss_coord : 20:8591050-22108012; 20:17607038-18187459; 20:17772772-21426789 po_P_loss_percent : 0.01; 0.26; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:17922287-17922720 Repeat_type_left : MLT2B1 Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:17923992-17924284 Repeat_type_right : L1ME3G Gap_right : . GC_content_right : 0.295 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : DSTN Closest_right : RRBP1 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv18787965 po_P_loss_coord : 20:8591050-22108012; 20:17607038-18187459 po_P_loss_percent : 0.00; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.590 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1973 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372542 Closest_right : SNRPB2 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:16718978-16719288; 20:16719289-16719390 Repeat_type_left : AluJb; MLT1G3 Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:16721199-16721338 Repeat_type_right : MIR3 Gap_right : . GC_content_right : 0.420 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 9157 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372542 Closest_right : SNRPB2 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.07; 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:16710285-16713588 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.350 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:16721199-16721338 Repeat_type_right : MIR3 Gap_right : . GC_content_right : 0.420 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 914 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC01723 Closest_right : SPTLC3 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012 po_P_loss_percent : 0.01; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:12989317-12989620 Repeat_type_left : AluSc8 Gap_left : . GC_content_left : 0.475 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:12990317-12990458 Repeat_type_right : MIRc Gap_right : . GC_content_right : 0.420 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : TMX4-AS1 Closest_right : PLCB1 |
.Location : . CytoBand : p12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15143162; dbVar:nssv15132301; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv15774578; dbVar:nssv16596279 po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6162533-8630887; 20:6336608-8577546; 20:6617696-13392559; 20:7566645-11028694; 20:8109308-8592318; 20:8113403-8599637 po_P_loss_percent : 0.01; 0.00; 0.01; 0.01; 0.02; 0.02; 0.01; 0.01; 0.10; 0.10 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:8130680-8131298 Repeat_type_left : L1ME1 Gap_left : . GC_content_left : 0.330 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:8130680-8131298 Repeat_type_right : L1ME1 Gap_right : . GC_content_right : 0.345 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 854 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC01713 Closest_right : LOC105372517 |
.Location : . CytoBand : p12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv16213886; dbVar:nssv15143162; dbVar:nssv15132301; dbVar:nssv15146659; dbVar:nssv15139599 po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:6034465-6779089; 20:6162533-8630887; 20:6336608-8577546; 20:6617696-13392559; 20:6733291-7323342 po_P_loss_percent : 0.01; 0.01; 0.01; 0.03; 0.01; 0.11; 0.03; 0.04; 0.01; 0.14 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:6750138-6750432; 20:6750433-6750644 Repeat_type_left : AluJb; HAL1b Gap_left : . GC_content_left : 0.295 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:6751147-6751443 Repeat_type_right : L1M5 Gap_right : . GC_content_right : 0.245 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : PRNP Closest_right : PRND |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121 po_P_loss_percent : 0.02; 0.04; 0.01; 0.01; 0.04; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:4712344-4712620 Repeat_type_left : L4_C_Mam Gap_left : . GC_content_left : 0.445 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.520 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : PRNP Closest_right : PRND |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121 po_P_loss_percent : 0.01; 0.02; 0.00; 0.01; 0.02; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:4712344-4712620 Repeat_type_left : L4_C_Mam Gap_left : . GC_content_left : 0.445 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:4712896-4713306 Repeat_type_right : L1PA8 Gap_right : . GC_content_right : 0.490 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 775 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : TMEM239 Closest_right : PCED1A |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425 po_P_loss_coord : 20:2482456-8205033 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.735 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:2822072-2822095 Repeat_type_right : (G)n Gap_right : . GC_content_right : 0.525 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material. 2J (NFS1, +0.00): One breakpoint is within an established HI gene / morbid gene, patient’s phenotype is either inconsistent with what is expected for LOF of that gene OR unknown. 2L (RBM39, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (4 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 49220 Gene_count : 4 |
fullAnnotation_mode : full |
NFS1; ROMO1; RBM39; LOC124904980; [...4genes]Gene_name : NFS1; ROMO1; RBM39; LOC124904980; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 16.38 ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.23842297557016 ExAC_synZ : 1.38318761602961 ExAC_misZ : 4.74208284095117 Closest_left : RBM12 Closest_right : PHF20 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.08; 0.08; 0.08; 0.08; 0.08; 0.17; 0.34; 0.75; 0.99; 0.94; 1.28 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:35712313-35727658 dbVar po_B_gain_someG_coord : chr20:35688109-35689678 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.475 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35724050-35724345 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.355 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 49220 |
splitAnnotation_mode : split |
NFS1Gene_name : NFS1; LOEUF_bin : 2 GnomAD_pLI : 5.5351e-02 ExAC_pLI : 8.3212e-01 HI : . TS : . DDD_HI_percent : 16.38 ACMG : . ExAC_cnvZ : -1.32339341252377 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21816840287075 ExAC_synZ : -0.588478731156264 ExAC_misZ : 1.53876878093165 GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206 NCBI_gene_ID : 9054 |
txStart-intron7Location : txStart-intron7 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : NM_021100 Tx_version : 5 Tx_start : 35668051 Tx_end : 35699352 Exon_count : 13 Overlapped_tx_length : 24148 Overlapped_CDS_length : 790 Overlapped_CDS_percent : 57 Frameshift : yes Dist_nearest_SS : 2 Nearest_SS_type : 3' Intersect_start : 35675204 Intersect_end : 35699352 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 49220 |
splitAnnotation_mode : split |
ROMO1Gene_name : ROMO1; LOEUF_bin : 7 GnomAD_pLI : 2.3400e-01 ExAC_pLI : 7.2681e-01 HI : . TS : . DDD_HI_percent : 11.99 ACMG : . ExAC_cnvZ : -1.29962656319736 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.23842297557016 ExAC_synZ : 1.38318761602961 ExAC_misZ : 1.67828870198139 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140823 |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.22 Location2 : 5'UTR-3'UTR Tx : NM_080748 Tx_version : 3 Tx_start : 35699404 Tx_end : 35700980 Exon_count : 3 Overlapped_tx_length : 1576 Overlapped_CDS_length : 240 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 35699404 Intersect_end : 35700980 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 49220 |
splitAnnotation_mode : split |
RBM39Gene_name : RBM39; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 10.32 ACMG : . ExAC_cnvZ : -0.976681088510344 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.883942004793881 ExAC_synZ : 0.688976679304137 ExAC_misZ : 4.74208284095117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9584 |
intron8-txEndLocation : intron8-txEnd CytoBand : q11.22 Location2 : CDS-3'UTR Tx : XM_006723891 Tx_version : 5 Tx_start : 35701346 Tx_end : 35740892 Exon_count : 17 Overlapped_tx_length : 23078 Overlapped_CDS_length : 906 Overlapped_CDS_percent : 80 Frameshift : no Dist_nearest_SS : 145 Nearest_SS_type : 5' Intersect_start : 35701346 Intersect_end : 35724424 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 49220 |
splitAnnotation_mode : split |
LOC124904980Gene_name : LOC124904980; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.22 Location2 : UTR Tx : XR_007067771 Tx_version : 1 Tx_start : 35716470 Tx_end : 35716570 Exon_count : 1 Overlapped_tx_length : 100 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 35716470 Intersect_end : 35716570 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:35712313-35727658 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (DIDO1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (4 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 43207 Gene_count : 4 |
fullAnnotation_mode : full |
TCFL5; LOC105372717; DIDO1; SNORA117; [...4genes]Gene_name : TCFL5; LOC105372717; DIDO1; SNORA117; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9999e-01 HI : . TS : . DDD_HI_percent : 83.17 ExAC_cnvZ : 0.329147917438777 ExAC_delZ : 0.377892107975703 ExAC_dupZ : 0.202879206019464 ExAC_synZ : 2.74858459795657 ExAC_misZ : 3.20419634105341 Closest_left : COL9A3 Closest_right : GID8 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
OSBPL2 (morbid/RE=EA_enhancer); RTEL1 (morbid[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); RTEL1 (morbid/RE=EA_enhancer); EEF1A2 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941 po_P_gain_percent : 0.07; 0.07; 0.07; 0.07; 0.07; 0.22; 0.38; 0.39; 0.39; 0.54; 0.53; 0.69; 0.61; 0.73; 0.72; 0.83; 1.46; 1.52; 1.52 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62848459-62848750; 20:62848756-62848887 Repeat_type_left : AluSq2; AluSg Gap_left : . GC_content_left : 0.540 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62891763-62891836 Repeat_type_right : Alu Gap_right : . GC_content_right : 0.385 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 43207 |
splitAnnotation_mode : split |
TCFL5Gene_name : TCFL5; LOEUF_bin : 0 GnomAD_pLI : 9.9128e-01 ExAC_pLI : 9.5807e-01 HI : . TS : . DDD_HI_percent : 78.12 ACMG : . ExAC_cnvZ : 0.105879289111841 ExAC_delZ : 0.180618441219885 ExAC_dupZ : -0.00663331660448 ExAC_synZ : 2.74858459795657 ExAC_misZ : 3.19947668185867 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10732 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : 5'UTR-3'UTR Tx : XM_024451809 Tx_version : 2 Tx_start : 62851489 Tx_end : 62861822 Exon_count : 6 Overlapped_tx_length : 10333 Overlapped_CDS_length : 1407 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62851489 Intersect_end : 62861822 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 43207 |
splitAnnotation_mode : split |
DIDO1Gene_name : DIDO1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9999e-01 HI : . TS : . DDD_HI_percent : 83.17 ACMG : . ExAC_cnvZ : 0.329147917438777 ExAC_delZ : 0.377892107975703 ExAC_dupZ : 0.202879206019464 ExAC_synZ : 1.8491700818147 ExAC_misZ : 3.20419634105341 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11083 |
intron14-txEndLocation : intron14-txEnd CytoBand : q13.33 Location2 : CDS-3'UTR Tx : NM_001193369 Tx_version : 2 Tx_start : 62877742 Tx_end : 62926505 Exon_count : 16 Overlapped_tx_length : 14133 Overlapped_CDS_length : 3378 Overlapped_CDS_percent : 50 Frameshift : no Dist_nearest_SS : 111 Nearest_SS_type : 5' Intersect_start : 62877742 Intersect_end : 62891875 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 43207 |
splitAnnotation_mode : split |
LOC105372717Gene_name : LOC105372717; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : XR_936988 Tx_version : 4 Tx_start : 62861434 Tx_end : 62878966 Exon_count : 4 Overlapped_tx_length : 17532 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62861434 Intersect_end : 62878966 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 43207 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : NR_145839 Tx_version : 1 Tx_start : 62882805 Tx_end : 62882903 Exon_count : 1 Overlapped_tx_length : 98 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62882805 Intersect_end : 62882903 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material. 2L (LINC01620/PKIG, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (4 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 71821 Gene_count : 4 |
fullAnnotation_mode : full |
LINC01620; TTPAL; SERINC3; PKIG; [...4genes]Gene_name : LINC01620; TTPAL; SERINC3; PKIG; LOEUF_bin : 1 GnomAD_pLI : 7.7880e-01 ExAC_pLI : 6.4076e-01 HI : . TS : . DDD_HI_percent : 61.95 ExAC_cnvZ : -0.468922735946001 ExAC_delZ : -2.08056467951045 ExAC_dupZ : 1.09020735707442 ExAC_synZ : 0.624423797541665 ExAC_misZ : 1.38608283403712 Closest_left : LINC01430 Closest_right : ADA |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
STK4 (morbid/RE=EA_enhancer); ADA (morbid/RE=[...]RE_gene : STK4 (morbid/RE=EA_enhancer); ADA (morbid/RE=EA_enhancer); HNF4A (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321 po_P_gain_percent : 0.11; 0.11; 0.11; 0.11; 0.11 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:44283465-44467135 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:44462244-44462288 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:44533763-44533971; 20:44534045-44534207 Repeat_type_right : L2; L2-3_Crp Gap_right : . GC_content_right : 0.435 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 71821 |
splitAnnotation_mode : split |
SERINC3Gene_name : SERINC3; LOEUF_bin : 1 GnomAD_pLI : 7.7880e-01 ExAC_pLI : 5.9025e-01 HI : . TS : . DDD_HI_percent : 61.95 ACMG : . ExAC_cnvZ : -0.816035652391995 ExAC_delZ : -2.08056467951045 ExAC_dupZ : 0.227114150202327 ExAC_synZ : -0.264159414390584 ExAC_misZ : -0.406577279632248 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10955 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_198941 Tx_version : 3 Tx_start : 44496220 Tx_end : 44522070 Exon_count : 11 Overlapped_tx_length : 25850 Overlapped_CDS_length : 1422 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 44496220 Intersect_end : 44522070 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 71821 |
splitAnnotation_mode : split |
TTPALGene_name : TTPAL; LOEUF_bin : 3 GnomAD_pLI : 1.1600e-01 ExAC_pLI : 6.4076e-01 HI : . TS : . DDD_HI_percent : 44.49 ACMG : . ExAC_cnvZ : -1.05203378013258 ExAC_delZ : -2.55513616136577 ExAC_dupZ : 0.343204261997586 ExAC_synZ : 0.0946480902434807 ExAC_misZ : 1.38608283403712 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79183 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001039199 Tx_version : 3 Tx_start : 44475873 Tx_end : 44494603 Exon_count : 5 Overlapped_tx_length : 18730 Overlapped_CDS_length : 1029 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 44475873 Intersect_end : 44494603 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 71821 |
splitAnnotation_mode : split |
PKIGGene_name : PKIG; LOEUF_bin : 7 GnomAD_pLI : 5.1408e-01 ExAC_pLI : 5.6458e-01 HI : . TS : . DDD_HI_percent : 46.68 ACMG : . ExAC_cnvZ : -0.468922735946001 ExAC_delZ : -2.0907823820437 ExAC_dupZ : 1.09020735707442 ExAC_synZ : 0.624423797541665 ExAC_misZ : 0.96266852891822 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11142 |
txStart-intron1Location : txStart-intron1 CytoBand : q13.12 Location2 : 5'UTR Tx : NM_001281444 Tx_version : 2 Tx_start : 44531874 Tx_end : 44619037 Exon_count : 6 Overlapped_tx_length : 2133 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2029 Nearest_SS_type : 5' Intersect_start : 44531874 Intersect_end : 44534007 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 71821 |
splitAnnotation_mode : split |
LINC01620Gene_name : LINC01620; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140834 |
txStart-intron2Location : txStart-intron2 CytoBand : q13.12 Location2 : UTR Tx : NR_132343 Tx_version : 1 Tx_start : 44451983 Tx_end : 44465344 Exon_count : 3 Overlapped_tx_length : 3158 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 37 Nearest_SS_type : 5' Intersect_start : 44462186 Intersect_end : 44465344 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:44283465-44467135 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material. 2L (SERINC3, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (4 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 69143 Gene_count : 4 |
fullAnnotation_mode : full |
LINC01430; LINC01620; TTPAL; SERINC3; [...4genes]Gene_name : LINC01430; LINC01620; TTPAL; SERINC3; LOEUF_bin : 1 GnomAD_pLI : 7.7880e-01 ExAC_pLI : 6.4076e-01 HI : . TS : . DDD_HI_percent : 61.95 ExAC_cnvZ : -0.816035652391995 ExAC_delZ : -2.08056467951045 ExAC_dupZ : 0.343204261997586 ExAC_synZ : 0.0946480902434807 ExAC_misZ : 1.38608283403712 Closest_left : MIR3646 Closest_right : PKIG |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
STK4 (morbid/RE=EA_enhancer); HNF4A (morbid/R[...]RE_gene : STK4 (morbid/RE=EA_enhancer); HNF4A (morbid/RE=EA_enhancer); ADA (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321 po_P_gain_percent : 0.11; 0.11; 0.11; 0.11; 0.11 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:44283465-44467135 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:44443359-44443718; 20:44443719-44444028 Repeat_type_left : Kanga1a; AluY Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.365 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 69143 |
splitAnnotation_mode : split |
SERINC3Gene_name : SERINC3; LOEUF_bin : 1 GnomAD_pLI : 7.7880e-01 ExAC_pLI : 5.9025e-01 HI : . TS : . DDD_HI_percent : 61.95 ACMG : . ExAC_cnvZ : -0.816035652391995 ExAC_delZ : -2.08056467951045 ExAC_dupZ : 0.227114150202327 ExAC_synZ : -0.264159414390584 ExAC_misZ : -0.406577279632248 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10955 |
exon3-txEndLocation : exon3-txEnd CytoBand : q13.12 Location2 : CDS-3'UTR Tx : NM_198941 Tx_version : 3 Tx_start : 44496220 Tx_end : 44522070 Exon_count : 11 Overlapped_tx_length : 16700 Overlapped_CDS_length : 1147 Overlapped_CDS_percent : 80 Frameshift : yes Dist_nearest_SS : 74 Nearest_SS_type : 3' Intersect_start : 44496220 Intersect_end : 44512920 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 69143 |
splitAnnotation_mode : split |
TTPALGene_name : TTPAL; LOEUF_bin : 3 GnomAD_pLI : 1.1600e-01 ExAC_pLI : 6.4076e-01 HI : . TS : . DDD_HI_percent : 44.49 ACMG : . ExAC_cnvZ : -1.05203378013258 ExAC_delZ : -2.55513616136577 ExAC_dupZ : 0.343204261997586 ExAC_synZ : 0.0946480902434807 ExAC_misZ : 1.38608283403712 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79183 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001039199 Tx_version : 3 Tx_start : 44475873 Tx_end : 44494603 Exon_count : 5 Overlapped_tx_length : 18730 Overlapped_CDS_length : 1029 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 44475873 Intersect_end : 44494603 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 69143 |
splitAnnotation_mode : split |
LINC01620Gene_name : LINC01620; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140834 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_132343 Tx_version : 1 Tx_start : 44451983 Tx_end : 44465344 Exon_count : 3 Overlapped_tx_length : 13361 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 44451983 Intersect_end : 44465344 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:44283465-44467135 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 69143 |
splitAnnotation_mode : split |
LINC01430Gene_name : LINC01430; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927242 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_109893 Tx_version : 1 Tx_start : 44448776 Tx_end : 44450557 Exon_count : 3 Overlapped_tx_length : 1781 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 44448776 Intersect_end : 44450557 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:44283465-44467135 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2J (CEP250/GDF5, +0.00): One breakpoint is within an established HI gene / morbid gene, patient’s phenotype is either inconsistent with what is expected for LOF of that gene OR unknown. 3A (3 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 24591 Gene_count : 3 |
fullAnnotation_mode : full |
GDF5; MIR1289-1; CEP250; [...3genes]Gene_name : GDF5; MIR1289-1; CEP250; LOEUF_bin : 2 GnomAD_pLI : 6.7002e-01 ExAC_pLI : 9.2319e-01 HI : 3 TS : . DDD_HI_percent : 50.61 ExAC_cnvZ : -0.458511700692603 ExAC_delZ : -1.56972452437764 ExAC_dupZ : 1.08930681605458 ExAC_synZ : -0.11979862993338 ExAC_misZ : 2.39058853401816 Closest_left : GDF5-AS1 Closest_right : CEP250-AS1 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
KY (morbid/RE=mTL_miRNA); TAOK1 (HI=3/morbid/[...]RE_gene : KY (morbid/RE=mTL_miRNA); TAOK1 (HI=3/morbid/RE=mTL_miRNA); EPB42 (morbid/RE=mTL_miRNA); RNF125 (morbid/RE=mTL_miRNA); PACS2 (morbid/RE=mTL_miRNA); DNAL1 (morbid/RE=mTL_miRNA); SETD1B (morbid/RE=mTL_miRNA); AMH (morbid/RE=mTL_miRNA); BICD2 (morbid/RE=mTL_miRNA); LPIN1 (morbid/RE=mTL_miRNA); TIMM8A (HI=3/morbid/RE=mTL_miRNA); SMPD1 (morbid/RE=mTL_miRNA); NUP133 (morbid/RE=mTL_miRNA); MYO1C (morbid/RE=mTL_miRNA); GSS (morbid/RE=EA_enhancer); GTF2H5 (morbid/RE=mTL_miRNA); THAP1 (morbid/RE=mTL_miRNA); IL10RB (morbid/RE=mTL_miRNA); MAGT1 (HI=3/morbid/RE=mTL_miRNA); ANG (morbid/RE=mTL_miRNA); SGPL1 (morbid/RE=mTL_miRNA); NUBPL (morbid/RE=mTL_miRNA); EIF5A (morbid/RE=mTL_miRNA); SCN2B (morbid/RE=mTL_miRNA); APOA1 (morbid/RE=mTL_miRNA); CLDN19 (morbid/RE=mTL_miRNA); ELP2 (morbid/RE=mTL_miRNA); SETD2 (HI=3/morbid/RE=mTL_miRNA); PIGM (morbid/RE=mTL_miRNA); POLR3A (morbid/RE=mTL_miRNA); LRAT (morbid/RE=mTL_miRNA); TNFRSF10B (morbid/RE=mTL_miRNA); SLC26A2 (morbid/RE=mTL_miRNA); SH2B3 (morbid/RE=mTL_miRNA); DNAJB4 (morbid/RE=mTL_miRNA); PIGU (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.04; 0.04; 0.04; 0.04; 0.04; 0.08; 0.17; 0.37; 0.49; 0.47; 0.64 |
10P_snvindel_nb : 10 P_snvindel_phen : Cone-rod_dystrophy_and_hearing_loss_2 |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35467793-35467943; 20:35467944-35468240 Repeat_type_right : L2c; AluSz Gap_right : . GC_content_right : 0.425 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 24591 |
splitAnnotation_mode : split |
GDF5Gene_name : GDF5; LOEUF_bin : 2 GnomAD_pLI : 6.7002e-01 ExAC_pLI : 9.2319e-01 HI : 3 TS : 0 DDD_HI_percent : 5.52 ACMG : . ExAC_cnvZ : -0.458511700692603 ExAC_delZ : -1.56972452437764 ExAC_dupZ : 0.53153914020515 ExAC_synZ : -0.11979862993338 ExAC_misZ : 2.39058853401816 GenCC_disease : Angel-shaped phalango-epiphyseal dysplasia; acromesomelic dysplasia 2A; acromesomelic dysplasia 2B; acromesomelic dysplasia 2C, Hunter-Thompson type; brachydactyly type A1; brachydactyly type A1C; brachydactyly type A2; brachydactyly type C; multiple synostoses syndrome; proximal symphalangism; proximal symphalangism 1A; symphalangism, proximal, 1B GenCC_moi : AD; AR; sD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 10080184; 11846737; 11857750; 12121354; 12124730; 12357473; 12357473[PMID]; 12567410; 12900894; 15173244[PMID]_22828428[PMID]; 16014698; 16014698[PMID]; 16127465; 16222676; 16222676[PMID]; 16532400; 16532400[PMID]; 16892395; 18283415; 18283415[PMID]_16892395[PMID]; 18629880; 19038017; 20683927[PMID]; 2703235; 27577507; 29371961; 390625; 8145850; 8589725; 8589725[PMID]; 9288091; 9288098; neant NCBI_gene_ID : 8200 |
txStart-intron1Location : txStart-intron1 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_001319138 Tx_version : 2 Tx_start : 35433346 Tx_end : 35454749 Exon_count : 4 Overlapped_tx_length : 11472 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1890 Nearest_SS_type : 3' Intersect_start : 35443277 Intersect_end : 35454749 |
601146; OMIM_ID : 601146; OMIM_phenotype : ?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250 (3) AR; Acromesomelic dysplasia 2A, 200700 (3) AR; Acromesomelic dysplasia 2B, 228900 (3) AR; Brachydactyly, type A1, C, 615072 (3) AR,AD; Brachydactyly, type A2, 112600 (3) AD; Brachydactyly, type C, 113100 (3) AD; Multiple synostoses syndrome 2, 610017 (3) AD; Symphalangism, proximal, 1B, 615298 (3) AD; (Osteoarthritis-5), 612400 (3); OMIM_inheritance : AD; AR; AR,AD OMIM_morbid : yes OMIM_morbid_candidate : yes |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 24591 |
splitAnnotation_mode : split |
CEP250Gene_name : CEP250; LOEUF_bin : 3 GnomAD_pLI : 9.4490e-33 ExAC_pLI : 8.2513e-17 HI : . TS : . DDD_HI_percent : 50.61 ACMG : . ExAC_cnvZ : -0.810215470023374 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.08930681605458 ExAC_synZ : -0.347127485629417 ExAC_misZ : -0.329624198705911 GenCC_disease : cone-rod dystrophy and hearing loss 2; male infertility with azoospermia or oligozoospermia due to single gene mutation; retinitis pigmentosa GenCC_moi : AR GenCC_classification : Disputed Evidence; Limited; Strong GenCC_pmid : 24780881; 29718797; 30459346; 30998843; 32719396 NCBI_gene_ID : 11190 |
txStart-intron9Location : txStart-intron9 CytoBand : q11.22 Location2 : 5'UTR-CDS Tx : XM_047439864 Tx_version : 1 Tx_start : 35455164 Tx_end : 35501964 Exon_count : 28 Overlapped_tx_length : 12704 Overlapped_CDS_length : 851 Overlapped_CDS_percent : 22 Frameshift : yes Dist_nearest_SS : 313 Nearest_SS_type : 5' Intersect_start : 35455164 Intersect_end : 35467868 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
10P_snvindel_nb : 10 P_snvindel_phen : Cone-rod_dystrophy_and_hearing_loss_2 |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 24591 |
splitAnnotation_mode : split |
MIR1289-1Gene_name : MIR1289-1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100302125 |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.22 Location2 : UTR Tx : NR_031620 Tx_version : 1 Tx_start : 35453953 Tx_end : 35454097 Exon_count : 1 Overlapped_tx_length : 144 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 35453953 Intersect_end : 35454097 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.45 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2I-1 (LAMA5, +0.45): NA 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (2 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 6014 Gene_count : 2 |
fullAnnotation_mode : full |
LAMA5; MIR4758; [...2genes]Gene_name : LAMA5; MIR4758; LOEUF_bin : 1 GnomAD_pLI : 6.4742e-03 ExAC_pLI : 9.4304e-01 HI : . TS : . DDD_HI_percent : 63.61 ExAC_cnvZ : -1.53572744678639 ExAC_delZ : -0.411115411986426 ExAC_dupZ : -1.9799993522554 ExAC_synZ : -4.33757037330041 ExAC_misZ : -2.11068945228824 Closest_left : ADRM1 Closest_right : LOC124904946 |
.Location : . CytoBand : q13.33 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SLC22A12 (morbid/RE=mTL_miRNA); SLC46A1 (morb[...]RE_gene : SLC22A12 (morbid/RE=mTL_miRNA); SLC46A1 (morbid/RE=mTL_miRNA); SETD1B (morbid/RE=mTL_miRNA); YY1 (morbid/RE=mTL_miRNA); PGK1 (morbid/RE=mTL_miRNA); APC2 (morbid/RE=mTL_miRNA); RELT (morbid/RE=mTL_miRNA); THRB (morbid/RE=mTL_miRNA); LRIT3 (morbid/RE=mTL_miRNA); COL9A3 (morbid/RE=EA_enhancer); EPAS1 (morbid/RE=mTL_miRNA); SLC17A9 (morbid/RE=EA_enhancer); SRD5A3 (morbid/RE=mTL_miRNA); FADS1 (morbid/RE=mTL_miRNA); DNAH17 (morbid/RE=mTL_miRNA); CAD (morbid/RE=mTL_miRNA); EXOSC2 (morbid/RE=mTL_miRNA); SETD1A (HI=3/morbid/RE=mTL_miRNA); EP300 (HI=3/morbid/RE=mTL_miRNA); GTPBP2 (morbid/RE=mTL_miRNA); AGRN (morbid/RE=mTL_miRNA); ITPA (morbid/RE=mTL_miRNA); EIF5A (morbid/RE=mTL_miRNA); PRSS12 (morbid/RE=mTL_miRNA); SHOC2 (morbid/RE=mTL_miRNA); PEX16 (morbid/RE=mTL_miRNA); ANG (morbid/RE=mTL_miRNA); GABRB2 (morbid/RE=mTL_miRNA); NSD1 (HI=3/morbid/RE=mTL_miRNA); VPS4A (morbid/RE=mTL_miRNA); TERT (morbid/RE=mTL_miRNA); KMT2D (HI=3/morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=EA_enhancer); ARHGAP31 (morbid/RE=mTL_miRNA); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.03; 0.05; 0.05; 0.05; 0.08; 0.07; 0.10; 0.09; 0.10; 0.10; 0.11; 0.20; 0.21; 0.21 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62327701-62327745 Repeat_type_left : (CAGGTGC)n Gap_left : . GC_content_left : 0.625 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62333820-62333876 Repeat_type_right : (GGTGG)n Gap_right : . GC_content_right : 0.705 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 6014 |
splitAnnotation_mode : split |
LAMA5Gene_name : LAMA5; LOEUF_bin : 1 GnomAD_pLI : 6.4742e-03 ExAC_pLI : 9.4304e-01 HI : . TS : . DDD_HI_percent : 63.61 ACMG : . ExAC_cnvZ : -1.53572744678639 ExAC_delZ : -0.411115411986426 ExAC_dupZ : -1.9799993522554 ExAC_synZ : -4.33757037330041 ExAC_misZ : -2.11068945228824 GenCC_disease : LAMA5-related multisystemic syndrome; nephrotic syndrome, IIa 26 GenCC_moi : AD; AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 201750; 280460; 28735299[PMID]; 29534211; 3515625 NCBI_gene_ID : 3911 |
intron23-intron36Location : intron23-intron36 CytoBand : q13.33 Location2 : CDS Tx : NM_005560 Tx_version : 6 Tx_start : 62309064 Tx_end : 62367312 Exon_count : 80 Overlapped_tx_length : 6014 Overlapped_CDS_length : 1919 Overlapped_CDS_percent : 17 Frameshift : yes Dist_nearest_SS : 60 Nearest_SS_type : 5' Intersect_start : 62327805 Intersect_end : 62333819 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 6014 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : NR_039915 Tx_version : 2 Tx_start : 62332486 Tx_end : 62332557 Exon_count : 1 Overlapped_tx_length : 71 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62332486 Intersect_end : 62332557 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.45 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2I-1 (LAMA5, +0.45): NA 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (2 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 7852 Gene_count : 2 |
fullAnnotation_mode : full |
LAMA5; MIR4758; [...2genes]Gene_name : LAMA5; MIR4758; LOEUF_bin : 1 GnomAD_pLI : 6.4742e-03 ExAC_pLI : 9.4304e-01 HI : . TS : . DDD_HI_percent : 63.61 ExAC_cnvZ : -1.53572744678639 ExAC_delZ : -0.411115411986426 ExAC_dupZ : -1.9799993522554 ExAC_synZ : -4.33757037330041 ExAC_misZ : -2.11068945228824 Closest_left : ADRM1 Closest_right : LOC124904946 |
.Location : . CytoBand : q13.33 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
EXOSC2 (morbid/RE=mTL_miRNA); CAD (morbid/RE=[...]RE_gene : EXOSC2 (morbid/RE=mTL_miRNA); CAD (morbid/RE=mTL_miRNA); DNAH17 (morbid/RE=mTL_miRNA); GTPBP2 (morbid/RE=mTL_miRNA); EP300 (HI=3/morbid/RE=mTL_miRNA); SETD1A (HI=3/morbid/RE=mTL_miRNA); AGRN (morbid/RE=mTL_miRNA); ITPA (morbid/RE=mTL_miRNA); PRSS12 (morbid/RE=mTL_miRNA); EIF5A (morbid/RE=mTL_miRNA); GABRB2 (morbid/RE=mTL_miRNA); SHOC2 (morbid/RE=mTL_miRNA); PEX16 (morbid/RE=mTL_miRNA); ANG (morbid/RE=mTL_miRNA); VPS4A (morbid/RE=mTL_miRNA); TERT (morbid/RE=mTL_miRNA); NSD1 (HI=3/morbid/RE=mTL_miRNA); ARHGAP31 (morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=EA_enhancer); KMT2D (HI=3/morbid/RE=mTL_miRNA); SLC46A1 (morbid/RE=mTL_miRNA); SLC22A12 (morbid/RE=mTL_miRNA); APC2 (morbid/RE=mTL_miRNA); PGK1 (morbid/RE=mTL_miRNA); SETD1B (morbid/RE=mTL_miRNA); YY1 (morbid/RE=mTL_miRNA); RELT (morbid/RE=mTL_miRNA); THRB (morbid/RE=mTL_miRNA); SRD5A3 (morbid/RE=mTL_miRNA); COL9A3 (morbid/RE=EA_enhancer); LRIT3 (morbid/RE=mTL_miRNA); EPAS1 (morbid/RE=mTL_miRNA); SLC17A9 (morbid/RE=EA_enhancer); FADS1 (morbid/RE=mTL_miRNA); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.04; 0.07; 0.07; 0.07; 0.10; 0.10; 0.13; 0.11; 0.13; 0.13; 0.15; 0.27; 0.28; 0.28 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62325712-62325938; 20:62325939-62326245 Repeat_type_left : L1M5; AluSx1 Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62333820-62333876 Repeat_type_right : (GGTGG)n Gap_right : . GC_content_right : 0.705 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 7852 |
splitAnnotation_mode : split |
LAMA5Gene_name : LAMA5; LOEUF_bin : 1 GnomAD_pLI : 6.4742e-03 ExAC_pLI : 9.4304e-01 HI : . TS : . DDD_HI_percent : 63.61 ACMG : . ExAC_cnvZ : -1.53572744678639 ExAC_delZ : -0.411115411986426 ExAC_dupZ : -1.9799993522554 ExAC_synZ : -4.33757037330041 ExAC_misZ : -2.11068945228824 GenCC_disease : LAMA5-related multisystemic syndrome; nephrotic syndrome, IIa 26 GenCC_moi : AD; AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 201750; 280460; 28735299[PMID]; 29534211; 3515625 NCBI_gene_ID : 3911 |
intron23-intron40Location : intron23-intron40 CytoBand : q13.33 Location2 : CDS Tx : NM_005560 Tx_version : 6 Tx_start : 62309064 Tx_end : 62367312 Exon_count : 80 Overlapped_tx_length : 7852 Overlapped_CDS_length : 2420 Overlapped_CDS_percent : 21 Frameshift : yes Dist_nearest_SS : 81 Nearest_SS_type : 5' Intersect_start : 62325967 Intersect_end : 62333819 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 7852 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : UTR Tx : NR_039915 Tx_version : 2 Tx_start : 62332486 Tx_end : 62332557 Exon_count : 1 Overlapped_tx_length : 71 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62332486 Intersect_end : 62332557 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2J (VAPB, +0.00): One breakpoint is within an established HI gene / morbid gene, patient’s phenotype is either inconsistent with what is expected for LOF of that gene OR unknown. 2L (APCDD1L, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (2 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 23135 Gene_count : 2 |
fullAnnotation_mode : full |
VAPB; APCDD1L; [...2genes]Gene_name : VAPB; APCDD1L; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 75.86 ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.889461460184267 Closest_left : RAB22A Closest_right : APCDD1L-DT |
.Location : . CytoBand : q13.32 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202 po_P_gain_percent : 0.04; 0.04; 0.04; 0.04; 0.04; 0.12; 0.20; 0.21; 0.21; 0.29; 0.44; 0.29; 0.37; 0.33; 0.39; 0.38 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.310 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58461665-58462098 Repeat_type_right : L2b Gap_right : . GC_content_right : 0.500 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 23135 |
splitAnnotation_mode : split |
VAPBGene_name : VAPB; LOEUF_bin : 2 GnomAD_pLI : 5.8111e-01 ExAC_pLI : 7.3972e-01 HI : . TS : . DDD_HI_percent : 35.24 ACMG : . ExAC_cnvZ : 0.374317960788326 ExAC_delZ : -0.0473171588852627 ExAC_dupZ : 0.346065861105305 ExAC_synZ : 0.44031338169414 ExAC_misZ : 0.889461460184267 GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029 NCBI_gene_ID : 9217 |
intron3-txEndLocation : intron3-txEnd CytoBand : q13.32 Location2 : CDS-3'UTR Tx : NM_004738 Tx_version : 5 Tx_start : 58389228 Tx_end : 58451101 Exon_count : 6 Overlapped_tx_length : 12226 Overlapped_CDS_length : 417 Overlapped_CDS_percent : 56 Frameshift : no Dist_nearest_SS : 69 Nearest_SS_type : 3' Intersect_start : 58438875 Intersect_end : 58451101 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 23135 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron4-txEndLocation : intron4-txEnd CytoBand : q13.32 Location2 : CDS-3'UTR Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 2910 Overlapped_CDS_length : 765 Overlapped_CDS_percent : 49 Frameshift : no Dist_nearest_SS : 456 Nearest_SS_type : 3' Intersect_start : 58459100 Intersect_end : 58462010 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material. 2J (PTGIS, +0.00): One breakpoint is within an established HI gene / morbid gene, patient’s phenotype is either inconsistent with what is expected for LOF of that gene OR unknown. 3A (2 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 20077 Gene_count : 2 |
fullAnnotation_mode : full |
PTGIS; LOC101927486; [...2genes]Gene_name : PTGIS; LOC101927486; LOEUF_bin : 6 GnomAD_pLI : 1.1970e-09 ExAC_pLI : 2.4233e-05 HI : . TS : . DDD_HI_percent : 65.68 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.636834400784232 ExAC_synZ : 0.275099413688182 ExAC_misZ : -0.751268886668729 Closest_left : KCNB1 Closest_right : LOC105372651 |
.Location : . CytoBand : q13.13 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ARFGEF2 (morbid/RE=EA_enhancer); KCNB1 (morbi[...]RE_gene : ARFGEF2 (morbid/RE=EA_enhancer); KCNB1 (morbid/RE=EA_enhancer); ZNFX1 (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321 po_P_gain_percent : 0.03; 0.03; 0.03; 0.03; 0.03; 0.10 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:49574752-49574899 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49555290-49557304 Repeat_type_left : MER4-int Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49576968-49577202; 20:49577203-49577487 Repeat_type_right : AluSq2; L1M7 Gap_right : . GC_content_right : 0.420 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 20077 |
splitAnnotation_mode : split |
PTGISGene_name : PTGIS; LOEUF_bin : 6 GnomAD_pLI : 1.1970e-09 ExAC_pLI : 2.4233e-05 HI : . TS : . DDD_HI_percent : 65.68 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.636834400784232 ExAC_synZ : 0.275099413688182 ExAC_misZ : -0.751268886668729 GenCC_disease : essential hypertension, genetic GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 12372404; 31453292; 32236489; 9217767 NCBI_gene_ID : 5740 |
txStart-intron1Location : txStart-intron1 CytoBand : q13.13 Location2 : 5'UTR-CDS Tx : NM_000961 Tx_version : 4 Tx_start : 49503873 Tx_end : 49568137 Exon_count : 10 Overlapped_tx_length : 10987 Overlapped_CDS_length : 74 Overlapped_CDS_percent : 4 Frameshift : yes Dist_nearest_SS : 6961 Nearest_SS_type : 3' Intersect_start : 49557150 Intersect_end : 49568137 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 20077 |
splitAnnotation_mode : split |
LOC101927486Gene_name : LOC101927486; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_244188 Tx_version : 4 Tx_start : 49568043 Tx_end : 49571934 Exon_count : 2 Overlapped_tx_length : 3891 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49568043 Intersect_end : 49571934 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2I-3 (AHCY, +0.00): NA 2L (ASIP, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (2 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 3421 Gene_count : 2 |
fullAnnotation_mode : full |
ASIP; AHCY; [...2genes]Gene_name : ASIP; AHCY; LOEUF_bin : 3 GnomAD_pLI : 3.5922e-02 ExAC_pLI : 9.4407e-01 HI : . TS : . DDD_HI_percent : 60.43 ExAC_cnvZ : -1.33103414756487 ExAC_delZ : -2.21666968337742 ExAC_dupZ : -0.662370965565268 ExAC_synZ : 0.146781763348225 ExAC_misZ : 2.04452899953228 Closest_left : EIF2S2 Closest_right : ITCH |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.02; 0.05; 0.07; 0.07; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:34239938-34240417 Repeat_type_left : MER65C Gap_left : . GC_content_left : 0.390 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:34243475-34246132 Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.375 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 3421 |
splitAnnotation_mode : split |
AHCYGene_name : AHCY; LOEUF_bin : 3 GnomAD_pLI : 3.5922e-02 ExAC_pLI : 9.4407e-01 HI : 30 TS : 0 DDD_HI_percent : 18.88 ACMG : . ExAC_cnvZ : -2.18693174638708 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -1.71698637074454 ExAC_synZ : -0.185281858750464 ExAC_misZ : 2.04452899953228 GenCC_disease : hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 15024124; 16435181[PMID]; 19177456; 20852937; 22959829; 26527160 NCBI_gene_ID : 191 |
intron10-intron10Location : intron10-intron10 CytoBand : q11.22 Location2 : 3'UTR Tx : XM_047439962 Tx_version : 1 Tx_start : 34231980 Tx_end : 34303355 Exon_count : 11 Overlapped_tx_length : 3421 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5065 Nearest_SS_type : 3' Intersect_start : 34240095 Intersect_end : 34243516 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 3421 |
splitAnnotation_mode : split |
ASIPGene_name : ASIP; LOEUF_bin : 8 GnomAD_pLI : 1.6298e-02 ExAC_pLI : 6.9627e-02 HI : . TS : . DDD_HI_percent : 60.43 ACMG : . ExAC_cnvZ : -1.33103414756487 ExAC_delZ : -2.21666968337742 ExAC_dupZ : -0.662370965565268 ExAC_synZ : 0.146781763348225 ExAC_misZ : -0.246330998187878 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 434 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.22 Location2 : 5'UTR Tx : XM_011528821 Tx_version : 1 Tx_start : 34186492 Tx_end : 34269344 Exon_count : 5 Overlapped_tx_length : 3421 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 16848 Nearest_SS_type : 3' Intersect_start : 34240095 Intersect_end : 34243516 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (MTG2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (2 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 30025 Gene_count : 2 |
fullAnnotation_mode : full |
MTG2; HRH3; [...2genes]Gene_name : MTG2; HRH3; LOEUF_bin : 3 GnomAD_pLI : 4.0810e-02 ExAC_pLI : 3.6688e-01 HI : . TS : . DDD_HI_percent : 81.42 ExAC_cnvZ : -0.596643002380721 ExAC_delZ : -0.0214076574624655 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 1.35426944705502 ExAC_misZ : 3.08954671886267 Closest_left : SS18L1 Closest_right : LOC105369209 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941 po_P_gain_percent : 0.05; 0.05; 0.05; 0.05; 0.05; 0.15; 0.26; 0.27; 0.27; 0.38; 0.37; 0.48; 0.43; 0.51; 0.50; 0.57; 1.02; 1.05; 1.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.625 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62223038-62224270 Repeat_type_right : ERV3-16A3_I-int Gap_right : . GC_content_right : 0.640 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 30025 |
splitAnnotation_mode : split |
HRH3Gene_name : HRH3; LOEUF_bin : 3 GnomAD_pLI : 4.0810e-02 ExAC_pLI : 3.6688e-01 HI : . TS : . DDD_HI_percent : 56.03 ACMG : . ExAC_cnvZ : -0.596643002380721 ExAC_delZ : -0.0214076574624655 ExAC_dupZ : -0.773468092419664 ExAC_synZ : 1.35426944705502 ExAC_misZ : 3.08954671886267 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11255 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.33 Location2 : 5'UTR-3'UTR Tx : XM_005260266 Tx_version : 4 Tx_start : 62214959 Tx_end : 62220278 Exon_count : 4 Overlapped_tx_length : 5319 Overlapped_CDS_length : 1362 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62214959 Intersect_end : 62220278 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 30025 |
splitAnnotation_mode : split |
MTG2Gene_name : MTG2; LOEUF_bin : 5 GnomAD_pLI : 3.3086e-04 ExAC_pLI : 6.0886e-04 HI : . TS : . DDD_HI_percent : 81.42 ACMG : . ExAC_cnvZ : -1.32774353389922 ExAC_delZ : -2.09512792694799 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 0.17073896031188 ExAC_misZ : 0.503074989693042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26164 |
exon2-txEndLocation : exon2-txEnd CytoBand : q13.33 Location2 : CDS-3'UTR Tx : NM_001384347 Tx_version : 1 Tx_start : 62183027 Tx_end : 62203568 Exon_count : 7 Overlapped_tx_length : 9970 Overlapped_CDS_length : 1097 Overlapped_CDS_percent : 86 Frameshift : yes Dist_nearest_SS : 80 Nearest_SS_type : 5' Intersect_start : 62193598 Intersect_end : 62203568 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material. 2L (MTG2/SS18L1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (2 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 10046 Gene_count : 2 |
fullAnnotation_mode : full |
SS18L1; MTG2; [...2genes]Gene_name : SS18L1; MTG2; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 81.42 ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : 0.17073896031188 ExAC_misZ : 1.60623992197187 Closest_left : PSMA7 Closest_right : HRH3 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
OSBPL2 (morbid/RE=EA_enhancer); COL9A3 (morbi[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941 po_P_gain_percent : 0.02; 0.02; 0.02; 0.02; 0.02; 0.05; 0.09; 0.09; 0.09; 0.13; 0.12; 0.16; 0.14; 0.17; 0.17; 0.19; 0.34; 0.35; 0.35 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:62182285-62183747 dbVar; po_B_gain_someG_coord : chr20:62178323-62186804 dbVar; chr20:62184134-62184886 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62178017-62178135; 20:62178136-62178452 Repeat_type_left : AluJo; AluSz Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62188147-62188325 Repeat_type_right : L1MEf Gap_right : . GC_content_right : 0.340 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 10046 |
splitAnnotation_mode : split |
SS18L1Gene_name : SS18L1; LOEUF_bin : 1 GnomAD_pLI : 9.8229e-01 ExAC_pLI : 8.1223e-01 HI : . TS : . DDD_HI_percent : 58.02 ACMG : . ExAC_cnvZ : 0.034057331126978 ExAC_delZ : 0.610959797672354 ExAC_dupZ : -0.27389313297765 ExAC_synZ : -0.587507217353276 ExAC_misZ : 1.60623992197187 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : . NCBI_gene_ID : 26039 |
intron11-txEndLocation : intron11-txEnd CytoBand : q13.33 Location2 : CDS-3'UTR Tx : NM_001301778 Tx_version : 2 Tx_start : 62143768 Tx_end : 62182514 Exon_count : 12 Overlapped_tx_length : 4305 Overlapped_CDS_length : 27 Overlapped_CDS_percent : 3 Frameshift : no Dist_nearest_SS : 972 Nearest_SS_type : 3' Intersect_start : 62178209 Intersect_end : 62182514 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 10046 |
splitAnnotation_mode : split |
MTG2Gene_name : MTG2; LOEUF_bin : 5 GnomAD_pLI : 3.3086e-04 ExAC_pLI : 6.0886e-04 HI : . TS : . DDD_HI_percent : 81.42 ACMG : . ExAC_cnvZ : -1.32774353389922 ExAC_delZ : -2.09512792694799 ExAC_dupZ : -0.773361084436182 ExAC_synZ : 0.17073896031188 ExAC_misZ : 0.503074989693042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26164 |
txStart-intron1Location : txStart-intron1 CytoBand : q13.33 Location2 : 5'UTR Tx : NM_001384347 Tx_version : 1 Tx_start : 62183027 Tx_end : 62203568 Exon_count : 7 Overlapped_tx_length : 5228 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5160 Nearest_SS_type : 3' Intersect_start : 62183027 Intersect_end : 62188255 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (DZANK1/LOC124904877, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (2 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 19804 Gene_count : 2 |
fullAnnotation_mode : full |
DZANK1; LOC124904877; [...2genes]Gene_name : DZANK1; LOC124904877; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LINC00851 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15606079; dbVar:nssv15161614; nssv15161711 po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:11736178-19350411; 20:17725131-33012932 po_P_gain_percent : 0.07; 0.08; 0.11; 0.03; 0.03; 0.03; 0.03; 0.08; 0.07; 0.10; 0.10; 0.08; 0.07; 0.08; 0.03; 0.07; 0.26; 0.13 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:18357770-18484726 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:18402584-18402673 dbVar po_B_gain_someG_coord : chr20:18357770-18484726 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:18394761-18394919 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.470 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18414585-18414817 Repeat_type_right : L1ME4b Gap_right : . GC_content_right : 0.410 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 19804 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron3-intron7Location : intron3-intron7 CytoBand : p11.23 Location2 : CDS Tx : XM_011529277 Tx_version : 3 Tx_start : 18383366 Tx_end : 18432929 Exon_count : 13 Overlapped_tx_length : 19804 Overlapped_CDS_length : 552 Overlapped_CDS_percent : 41 Frameshift : no Dist_nearest_SS : 32 Nearest_SS_type : 3' Intersect_start : 18394740 Intersect_end : 18414544 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:18357770-18484726 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 19804 |
splitAnnotation_mode : split |
LOC124904877Gene_name : LOC124904877; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-txEndLocation : intron1-txEnd CytoBand : p11.23 Location2 : UTR Tx : XR_007067546 Tx_version : 1 Tx_start : 18389823 Tx_end : 18400109 Exon_count : 2 Overlapped_tx_length : 5369 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4722 Nearest_SS_type : 5' Intersect_start : 18394740 Intersect_end : 18400109 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:18357770-18484726 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2I-3 (TAF4, +0.00): NA 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 4430 Gene_count : 1 |
fullAnnotation_mode : full |
TAF4Gene_name : TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 Closest_left : MIR1257 Closest_right : LOC105372704 |
.Location : . CytoBand : q13.33 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.04; 0.04; 0.06; 0.05; 0.07; 0.06; 0.07; 0.07; 0.08; 0.15; 0.16; 0.16 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:61819451-62008753 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:61819451-62008753 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.580 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 4430 |
splitAnnotation_mode : split |
TAF4Gene_name : TAF4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9949e-01 HI : . TS : . DDD_HI_percent : 53.52 ACMG : . ExAC_cnvZ : -0.329845887401147 ExAC_delZ : 1.11371388652181 ExAC_dupZ : -0.899908250734044 ExAC_synZ : 1.34288564453676 ExAC_misZ : 3.89519478631344 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6874 |
intron15-intron15Location : intron15-intron15 CytoBand : q13.33 Location2 : CDS Tx : XM_047440429 Tx_version : 1 Tx_start : 61974797 Tx_end : 62065863 Exon_count : 16 Overlapped_tx_length : 4430 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1488 Nearest_SS_type : 3' Intersect_start : 61977823 Intersect_end : 61982253 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:61819451-62008753 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material. 2I-3 (NFS1, +0.00): NA 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 12536 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.02; 0.02; 0.02; 0.02; 0.02; 0.04; 0.09; 0.19; 0.25; 0.24; 0.33 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:35688109-35689678 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35684126-35684407 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.560 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35696687-35696824; 20:35696825-35697136 Repeat_type_right : AluSq; AluSp Gap_right : . GC_content_right : 0.515 |
|||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 12536 |
splitAnnotation_mode : split |
NFS1Gene_name : NFS1; LOEUF_bin : 2 GnomAD_pLI : 5.5351e-02 ExAC_pLI : 8.3212e-01 HI : . TS : . DDD_HI_percent : 16.38 ACMG : . ExAC_cnvZ : -1.32339341252377 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.21816840287075 ExAC_synZ : -0.588478731156264 ExAC_misZ : 1.53876878093165 GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206 NCBI_gene_ID : 9054 |
intron3-intron5Location : intron3-intron5 CytoBand : q11.22 Location2 : CDS Tx : NM_021100 Tx_version : 5 Tx_start : 35668051 Tx_end : 35699352 Exon_count : 13 Overlapped_tx_length : 12536 Overlapped_CDS_length : 237 Overlapped_CDS_percent : 17 Frameshift : no Dist_nearest_SS : 379 Nearest_SS_type : 3' Intersect_start : 35684303 Intersect_end : 35696839 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2I-3 (GDF5, +0.00): NA 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 5203 Gene_count : 1 |
fullAnnotation_mode : full |
GDF5Gene_name : GDF5; LOEUF_bin : 2 GnomAD_pLI : 6.7002e-01 ExAC_pLI : 9.2319e-01 HI : 3 TS : . DDD_HI_percent : 5.52 ExAC_cnvZ : -0.458511700692603 ExAC_delZ : -1.56972452437764 ExAC_dupZ : 0.53153914020515 ExAC_synZ : -0.11979862993338 ExAC_misZ : 2.39058853401816 Closest_left : GDF5-AS1 Closest_right : MIR1289-1 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.08; 0.10; 0.10; 0.14 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35440718-35440901; 20:35440912-35441018 Repeat_type_left : L2b; L2c Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35445688-35445999; 20:35446010-35446026; 20:35446027-35446331 Repeat_type_right : AluSp; MIRb; AluSq2 Gap_right : . GC_content_right : 0.380 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 5203 |
splitAnnotation_mode : split |
GDF5Gene_name : GDF5; LOEUF_bin : 2 GnomAD_pLI : 6.7002e-01 ExAC_pLI : 9.2319e-01 HI : 3 TS : 0 DDD_HI_percent : 5.52 ACMG : . ExAC_cnvZ : -0.458511700692603 ExAC_delZ : -1.56972452437764 ExAC_dupZ : 0.53153914020515 ExAC_synZ : -0.11979862993338 ExAC_misZ : 2.39058853401816 GenCC_disease : Angel-shaped phalango-epiphyseal dysplasia; acromesomelic dysplasia 2A; acromesomelic dysplasia 2B; acromesomelic dysplasia 2C, Hunter-Thompson type; brachydactyly type A1; brachydactyly type A1C; brachydactyly type A2; brachydactyly type C; multiple synostoses syndrome; proximal symphalangism; proximal symphalangism 1A; symphalangism, proximal, 1B GenCC_moi : AD; AR; sD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 10080184; 11846737; 11857750; 12121354; 12124730; 12357473; 12357473[PMID]; 12567410; 12900894; 15173244[PMID]_22828428[PMID]; 16014698; 16014698[PMID]; 16127465; 16222676; 16222676[PMID]; 16532400; 16532400[PMID]; 16892395; 18283415; 18283415[PMID]_16892395[PMID]; 18629880; 19038017; 20683927[PMID]; 2703235; 27577507; 29371961; 390625; 8145850; 8589725; 8589725[PMID]; 9288091; 9288098; neant NCBI_gene_ID : 8200 |
intron1-intron2Location : intron1-intron2 CytoBand : q11.22 Location2 : 5'UTR Tx : NM_001319138 Tx_version : 2 Tx_start : 35433346 Tx_end : 35454749 Exon_count : 4 Overlapped_tx_length : 5203 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 376 Nearest_SS_type : 5' Intersect_start : 35440855 Intersect_end : 35446058 |
601146; OMIM_ID : 601146; OMIM_phenotype : ?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250 (3) AR; Acromesomelic dysplasia 2A, 200700 (3) AR; Acromesomelic dysplasia 2B, 228900 (3) AR; Brachydactyly, type A1, C, 615072 (3) AR,AD; Brachydactyly, type A2, 112600 (3) AD; Brachydactyly, type C, 113100 (3) AD; Multiple synostoses syndrome 2, 610017 (3) AD; Symphalangism, proximal, 1B, 615298 (3) AD; (Osteoarthritis-5), 612400 (3); OMIM_inheritance : AD; AR; AR,AD OMIM_morbid : yes OMIM_morbid_candidate : yes |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.45 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2I-1 (ZNF341, +0.45): NA 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 5251 Gene_count : 1 |
fullAnnotation_mode : full |
ZNF341Gene_name : ZNF341; LOEUF_bin : 3 GnomAD_pLI : 2.4063e-06 ExAC_pLI : 1.2419e-01 HI : . TS : . DDD_HI_percent : 48.05 ExAC_cnvZ : -1.80503660369897 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.520281061391948 ExAC_synZ : -0.656830897300228 ExAC_misZ : 0.699352069531651 Closest_left : LOC124904890 Closest_right : ZNF341-AS1 |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.03; 0.05; 0.04; 0.08; 0.11; 0.10; 0.14 |
1P_snvindel_nb : 1 P_snvindel_phen : Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:33759475-33761539 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33759294-33759583; 20:33759587-33759757 Repeat_type_left : AluSp; MER113 Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33764668-33764816; 20:33764817-33765125 Repeat_type_right : MER33; AluJr Gap_right : . GC_content_right : 0.465 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 5251 |
splitAnnotation_mode : split |
ZNF341Gene_name : ZNF341; LOEUF_bin : 3 GnomAD_pLI : 2.4063e-06 ExAC_pLI : 1.2419e-01 HI : . TS : . DDD_HI_percent : 48.05 ACMG : . ExAC_cnvZ : -1.80503660369897 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.520281061391948 ExAC_synZ : -0.656830897300228 ExAC_misZ : 0.699352069531651 GenCC_disease : hyper-IgE recurrent infection syndrome 3, autosomal recessive GenCC_moi : AR GenCC_classification : Strong GenCC_pmid : 29907690; 29907691 NCBI_gene_ID : 84905 |
intron7-intron8Location : intron7-intron8 CytoBand : q11.22 Location2 : CDS Tx : NM_001282933 Tx_version : 2 Tx_start : 33731995 Tx_end : 33792269 Exon_count : 15 Overlapped_tx_length : 5251 Overlapped_CDS_length : 194 Overlapped_CDS_percent : 7 Frameshift : yes Dist_nearest_SS : 817 Nearest_SS_type : 5' Intersect_start : 33759623 Intersect_end : 33764874 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2I-3 (KIF3B, +0.00): NA 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
KIF3BGene_name : KIF3B; LOEUF_bin : 2 GnomAD_pLI : 8.4213e-02 ExAC_pLI : 2.9915e-01 HI : . TS : . DDD_HI_percent : 22.85 ExAC_cnvZ : 0.160275694917033 ExAC_delZ : -0.861533762576394 ExAC_dupZ : 0.853647510937186 ExAC_synZ : -0.691470280996355 ExAC_misZ : 3.07202873442255 Closest_left : LOC124904885 Closest_right : ASXL1 |
.Location : . CytoBand : q11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
POFUT1 (morbid/RE=EA_enhancer); HCK (morbid/R[...]RE_gene : POFUT1 (morbid/RE=EA_enhancer); HCK (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv17969243; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15119488; dbVar:nssv15120361; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:24182140-33233051; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:31254984-32575288; 20:31254984-33473080; 20:32062769-35906606 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.00; 0.01; 0.01; 0.01; 0.04; 0.02; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:32328142-32328455; 20:32328456-32328626 Repeat_type_left : AluSx1; AluSx1 Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:32328891-32328917; 20:32328918-32329206 Repeat_type_right : (TTAAA)n; AluSx Gap_right : . GC_content_right : 0.445 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 500 |
splitAnnotation_mode : split |
KIF3BGene_name : KIF3B; LOEUF_bin : 2 GnomAD_pLI : 8.4213e-02 ExAC_pLI : 2.9915e-01 HI : . TS : . DDD_HI_percent : 22.85 ACMG : . ExAC_cnvZ : 0.160275694917033 ExAC_delZ : -0.861533762576394 ExAC_dupZ : 0.853647510937186 ExAC_synZ : -0.691470280996355 ExAC_misZ : 3.07202873442255 GenCC_disease : ciliopathy; retinitis pigmentosa 89 GenCC_moi : AD GenCC_classification : Limited; Moderate; Strong GenCC_pmid : 32386558 NCBI_gene_ID : 9371 |
intron7-intron7Location : intron7-intron7 CytoBand : q11.21 Location2 : CDS Tx : NM_004798 Tx_version : 4 Tx_start : 32277650 Tx_end : 32335011 Exon_count : 9 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 795 Nearest_SS_type : 5' Intersect_start : 32328456 Intersect_end : 32328956 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (LINC02970, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 439 Gene_count : 1 |
fullAnnotation_mode : full |
LINC02970Gene_name : LINC02970; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : MIR133A2 Closest_right : LOC124904948 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62597825-62597983 Repeat_type_left : MIR3 Gap_left : . GC_content_left : 0.580 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:62598040-62598494 Repeat_type_right : L1ME1 Gap_right : . GC_content_right : 0.465 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 439 |
splitAnnotation_mode : split |
LINC02970Gene_name : LINC02970; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105372712 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.33 Location2 : UTR Tx : NR_184037 Tx_version : 1 Tx_start : 62594264 Tx_end : 62603441 Exon_count : 2 Overlapped_tx_length : 439 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 524 Nearest_SS_type : 3' Intersect_start : 62597742 Intersect_end : 62598181 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (CDH4, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 11756 Gene_count : 1 |
fullAnnotation_mode : full |
CDH4Gene_name : CDH4; LOEUF_bin : 1 GnomAD_pLI : 7.4348e-01 ExAC_pLI : 9.6699e-01 HI : . TS : . DDD_HI_percent : 36.97 ExAC_cnvZ : 0.359975831988571 ExAC_delZ : 1.0263721335426 ExAC_dupZ : -0.0547762026548261 ExAC_synZ : 0.441877137052085 ExAC_misZ : 2.49014599267761 Closest_left : LOC105372703 Closest_right : LOC100128310 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326 po_P_gain_percent : 0.02; 0.02; 0.02; 0.02; 0.02; 0.06; 0.10; 0.11; 0.11; 0.15; 0.15; 0.19; 0.17; 0.20; 0.20; 0.22; 0.40 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:61443762-61445041 Repeat_type_left : (TG)n Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:61456366-61456594 Repeat_type_right : MER20 Gap_right : . GC_content_right : 0.450 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 11756 |
splitAnnotation_mode : split |
CDH4Gene_name : CDH4; LOEUF_bin : 1 GnomAD_pLI : 7.4348e-01 ExAC_pLI : 9.6699e-01 HI : . TS : . DDD_HI_percent : 36.97 ACMG : . ExAC_cnvZ : 0.359975831988571 ExAC_delZ : 1.0263721335426 ExAC_dupZ : -0.0547762026548261 ExAC_synZ : 0.441877137052085 ExAC_misZ : 2.49014599267761 GenCC_disease : multiple congenital anomalies/dysmorphic syndrome GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 1002 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.33 Location2 : CDS Tx : NM_001794 Tx_version : 5 Tx_start : 61252260 Tx_end : 61940617 Exon_count : 16 Overlapped_tx_length : 11756 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 189893 Nearest_SS_type : 5' Intersect_start : 61444830 Intersect_end : 61456586 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (CDH4, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 9399 Gene_count : 1 |
fullAnnotation_mode : full |
CDH4Gene_name : CDH4; LOEUF_bin : 1 GnomAD_pLI : 7.4348e-01 ExAC_pLI : 9.6699e-01 HI : . TS : . DDD_HI_percent : 36.97 ExAC_cnvZ : 0.359975831988571 ExAC_delZ : 1.0263721335426 ExAC_dupZ : -0.0547762026548261 ExAC_synZ : 0.441877137052085 ExAC_misZ : 2.49014599267761 Closest_left : LOC105372703 Closest_right : LOC100128310 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.05; 0.08; 0.08; 0.09; 0.12; 0.12; 0.15; 0.13; 0.16; 0.16; 0.18; 0.32 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:61443762-61445041 Repeat_type_left : (TG)n Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:61454169-61454445 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.530 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 9399 |
splitAnnotation_mode : split |
CDH4Gene_name : CDH4; LOEUF_bin : 1 GnomAD_pLI : 7.4348e-01 ExAC_pLI : 9.6699e-01 HI : . TS : . DDD_HI_percent : 36.97 ACMG : . ExAC_cnvZ : 0.359975831988571 ExAC_delZ : 1.0263721335426 ExAC_dupZ : -0.0547762026548261 ExAC_synZ : 0.441877137052085 ExAC_misZ : 2.49014599267761 GenCC_disease : multiple congenital anomalies/dysmorphic syndrome GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 1002 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.33 Location2 : CDS Tx : NM_001794 Tx_version : 5 Tx_start : 61252260 Tx_end : 61940617 Exon_count : 16 Overlapped_tx_length : 9399 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 189893 Nearest_SS_type : 5' Intersect_start : 61444830 Intersect_end : 61454229 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material. 2L (APCDD1L, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 7725 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.04; 0.07; 0.07; 0.07; 0.10; 0.15; 0.10; 0.12; 0.11; 0.13; 0.13 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:58495907-58503879 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58489796-58490284 Repeat_type_left : Arthur1 Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58497390-58497777 Repeat_type_right : MLT1B Gap_right : . GC_content_right : 0.490 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 7725 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.32 Location2 : CDS Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 7725 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 16123 Nearest_SS_type : 5' Intersect_start : 58489968 Intersect_end : 58497693 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (APCDD1L, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 4924 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.03; 0.04; 0.04; 0.04; 0.06; 0.09; 0.06; 0.08; 0.07; 0.08; 0.08 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:58489796-58490284 Repeat_type_left : Arthur1 Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:58494753-58495024 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.600 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 4924 |
splitAnnotation_mode : split |
APCDD1LGene_name : APCDD1L; LOEUF_bin : 4 GnomAD_pLI : 5.8959e-02 ExAC_pLI : 1.7559e-02 HI : . TS : . DDD_HI_percent : 75.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.1428619576303 ExAC_misZ : 0.682394111112003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 164284 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.32 Location2 : CDS Tx : NM_001304787 Tx_version : 2 Tx_start : 58459100 Tx_end : 58515399 Exon_count : 5 Overlapped_tx_length : 4924 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 18924 Nearest_SS_type : 5' Intersect_start : 58489968 Intersect_end : 58494892 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (LOC105372666, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 765 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105372666Gene_name : LOC105372666; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904931 Closest_right : LOC105372665 |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15145785 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:49947238-55875406 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:52569336-52569628; 20:52569629-52569710; 20:52569807-52570026 Repeat_type_left : AluJr; (TTTCTC)n; L1MC4 Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:52570367-52570451 Repeat_type_right : (TAATA)n Gap_right : . GC_content_right : 0.250 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 765 |
splitAnnotation_mode : split |
LOC105372666Gene_name : LOC105372666; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
exon7-exon7Location : exon7-exon7 CytoBand : q13.2 Location2 : UTR Tx : XR_001754671 Tx_version : 2 Tx_start : 52210642 Tx_end : 52571981 Exon_count : 7 Overlapped_tx_length : 765 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3129 Nearest_SS_type : 3' Intersect_start : 52569719 Intersect_end : 52570484 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (R3HDML-AS1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
R3HDML-AS1Gene_name : R3HDML-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : R3HDML Closest_right : HNF4A |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:44283465-44467135 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:44283465-44467135 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:44353814-44354108 Repeat_type_left : AluSz Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:44354187-44354447 Repeat_type_right : AluSg Gap_right : . GC_content_right : 0.425 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 500 |
splitAnnotation_mode : split |
R3HDML-AS1Gene_name : R3HDML-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105372629 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.12 Location2 : UTR Tx : NR_184036 Tx_version : 1 Tx_start : 44347551 Tx_end : 44355242 Exon_count : 4 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 502 Nearest_SS_type : 5' Intersect_start : 44354016 Intersect_end : 44354516 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:44283465-44467135 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (TOX2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 953 Gene_count : 1 |
fullAnnotation_mode : full |
TOX2Gene_name : TOX2; LOEUF_bin : 3 GnomAD_pLI : 3.1987e-02 ExAC_pLI : 6.7408e-01 HI : . TS : . DDD_HI_percent : 37.74 ExAC_cnvZ : -0.388796873769303 ExAC_delZ : -1.81719107302044 ExAC_dupZ : 0.910063942862999 ExAC_synZ : 0.838778443740044 ExAC_misZ : 0.711413277389895 Closest_left : LINC01728 Closest_right : JPH2 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:43926355-43926455 Repeat_type_left : MIRc Gap_left : . GC_content_left : 0.405 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:43926715-43927337 Repeat_type_right : LTR87 Gap_right : . GC_content_right : 0.425 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 953 |
splitAnnotation_mode : split |
TOX2Gene_name : TOX2; LOEUF_bin : 3 GnomAD_pLI : 3.1987e-02 ExAC_pLI : 6.7408e-01 HI : . TS : . DDD_HI_percent : 37.74 ACMG : . ExAC_cnvZ : -0.388796873769303 ExAC_delZ : -1.81719107302044 ExAC_dupZ : 0.910063942862999 ExAC_synZ : 0.838778443740044 ExAC_misZ : 0.711413277389895 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84969 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.12 Location2 : CDS Tx : XM_047440563 Tx_version : 1 Tx_start : 43914851 Tx_end : 44066857 Exon_count : 8 Overlapped_tx_length : 953 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 11316 Nearest_SS_type : 5' Intersect_start : 43926306 Intersect_end : 43927259 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (PHF20, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 10880 Gene_count : 1 |
fullAnnotation_mode : full |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 Closest_left : LOC124904980 Closest_right : SCAND1 |
.Location : . CytoBand : q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.02; 0.02; 0.02; 0.02; 0.02; 0.04; 0.07; 0.17; 0.22; 0.21; 0.28 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:35802067-35802255 Repeat_type_left : MIRc Gap_left : . GC_content_left : 0.410 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:35812454-35812966; 20:35812967-35813272 Repeat_type_right : L1MC4; AluY Gap_right : . GC_content_right : 0.520 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 10880 |
splitAnnotation_mode : split |
PHF20Gene_name : PHF20; LOEUF_bin : 0 GnomAD_pLI : 9.9875e-01 ExAC_pLI : 9.7574e-01 HI : . TS : . DDD_HI_percent : 18.87 ACMG : . ExAC_cnvZ : -1.43875861695951 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.481646081289262 ExAC_synZ : 1.00355903616856 ExAC_misZ : 1.84036740504907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51230 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.23 Location2 : CDS Tx : NM_016436 Tx_version : 5 Tx_start : 35772014 Tx_end : 35950370 Exon_count : 18 Overlapped_tx_length : 10880 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 541 Nearest_SS_type : 5' Intersect_start : 35802146 Intersect_end : 35813026 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (CBFA2T2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 8236 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.03; 0.05; 0.08; 0.06; 0.13; 0.17; 0.16; 0.21 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.355 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33589759-33589957; 20:33589971-33590264 Repeat_type_right : Charlie5; AluJr Gap_right : . GC_content_right : 0.335 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 8236 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : CDS Tx : NM_001032999 Tx_version : 3 Tx_start : 33490095 Tx_end : 33650030 Exon_count : 11 Overlapped_tx_length : 8236 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 17022 Nearest_SS_type : 3' Intersect_start : 33581697 Intersect_end : 33589933 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (CBFA2T2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 489 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.01; 0.01; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33513052-33513293; 20:33513346-33513660 Repeat_type_left : L1ME3A; AluSg Gap_left : . GC_content_left : 0.410 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33513346-33513660; 20:33513663-33513839 Repeat_type_right : AluSg; AluSx1 Gap_right : . GC_content_right : 0.540 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 489 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : CDS Tx : NM_001032999 Tx_version : 3 Tx_start : 33490095 Tx_end : 33650030 Exon_count : 11 Overlapped_tx_length : 489 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 22948 Nearest_SS_type : 5' Intersect_start : 33513249 Intersect_end : 33513738 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (CBFA2T2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 286 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33501631-33501939 Repeat_type_left : AluSc5 Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33501957-33502079; 20:33502134-33502398 Repeat_type_right : AluJo; L1MC4 Gap_right : . GC_content_right : 0.445 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 286 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : CDS Tx : NM_001032999 Tx_version : 3 Tx_start : 33490095 Tx_end : 33650030 Exon_count : 11 Overlapped_tx_length : 286 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 11462 Nearest_SS_type : 5' Intersect_start : 33501763 Intersect_end : 33502049 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (PYGB, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
PYGBGene_name : PYGB; LOEUF_bin : 4 GnomAD_pLI : 1.4144e-14 ExAC_pLI : 4.7649e-07 HI : . TS : . DDD_HI_percent : 37.49 ExAC_cnvZ : -0.568550656944686 ExAC_delZ : 0.563911426838114 ExAC_dupZ : -1.01545628970025 ExAC_synZ : -0.104862396376509 ExAC_misZ : 0.781668949921116 Closest_left : LOC105372579 Closest_right : ABHD12 |
.Location : . CytoBand : p11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161655; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994; dbVar:nssv15161281; dbVar:nssv17969243 po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87197-30403687; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274; 20:22061587-30285812; 20:24182140-33233051 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:25015257-26202005; chr20:25086404-25496170; chr20:25104610-25364011; chr20:25121452-25367702; chr20:25284710-25318462 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:25086404-25496170 dbVar; chr20:25121452-25367702 dbVar; po_B_gain_someG_coord : chr20:25015257-26202005 dbVar; chr20:25104610-25364011 dbVar; chr20:25284710-25318462 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.620 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:25287369-25287681; 20:25287703-25288001 Repeat_type_right : AluJr; AluJo Gap_right : . GC_content_right : 0.500 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 500 |
splitAnnotation_mode : split |
PYGBGene_name : PYGB; LOEUF_bin : 4 GnomAD_pLI : 1.4144e-14 ExAC_pLI : 4.7649e-07 HI : . TS : . DDD_HI_percent : 37.49 ACMG : . ExAC_cnvZ : -0.568550656944686 ExAC_delZ : 0.563911426838114 ExAC_dupZ : -1.01545628970025 ExAC_synZ : -0.104862396376509 ExAC_misZ : 0.781668949921116 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5834 |
intron14-intron14Location : intron14-intron14 CytoBand : p11.21 Location2 : CDS Tx : XM_047440342 Tx_version : 1 Tx_start : 25248084 Tx_end : 25290622 Exon_count : 16 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 310 Nearest_SS_type : 3' Intersect_start : 25287217 Intersect_end : 25287717 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:25015257-26202005; chr20:25086404-25496170; chr20:25104610-25364011; chr20:25121452-25367702; chr20:25284710-25318462 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (XRN2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 620 Gene_count : 1 |
fullAnnotation_mode : full |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 Closest_left : KIZ-AS1 Closest_right : NKX2-4 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994 po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:21324325-21324558 Repeat_type_left : L1ME3E Gap_left : . GC_content_left : 0.340 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:21324814-21325149 Repeat_type_right : L1MB7 Gap_right : . GC_content_right : 0.320 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 620 |
splitAnnotation_mode : split |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ACMG : . ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22803 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.22 Location2 : CDS Tx : NM_012255 Tx_version : 5 Tx_start : 21303330 Tx_end : 21389825 Exon_count : 30 Overlapped_tx_length : 620 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1182 Nearest_SS_type : 3' Intersect_start : 21324476 Intersect_end : 21325096 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (RALGAPA2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 75159 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994 po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274 po_P_gain_percent : 0.25; 0.29; 0.12; 0.12; 0.12; 0.12; 0.32; 0.25; 0.29; 0.25; 0.29; 0.12; 0.25; 0.49; 0.45; 0.62 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:20516882-20518061 Repeat_type_left : L1PBb Gap_left : . GC_content_left : 0.540 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.425 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 75159 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron2-intron17Location : intron2-intron17 CytoBand : p11.23 Location2 : CDS Tx : XM_047440324 Tx_version : 1 Tx_start : 20389529 Tx_end : 20605152 Exon_count : 25 Overlapped_tx_length : 75159 Overlapped_CDS_length : 1881 Overlapped_CDS_percent : 48 Frameshift : no Dist_nearest_SS : 893 Nearest_SS_type : 3' Intersect_start : 20517048 Intersect_end : 20592207 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (DZANK1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 Closest_left : LOC124904877 Closest_right : POLR3F |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15606079; dbVar:nssv15161614; nssv15161711 po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:11736178-19350411; 20:17725131-33012932 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:18357770-18484726 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:18357770-18484726 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.340 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:18414585-18414817 Repeat_type_right : L1ME4b Gap_right : . GC_content_right : 0.410 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 500 |
splitAnnotation_mode : split |
DZANK1Gene_name : DZANK1; LOEUF_bin : 6 GnomAD_pLI : 5.3034e-21 ExAC_pLI : 4.5951e-15 HI : . TS : . DDD_HI_percent : 66.69 ACMG : . ExAC_cnvZ : -0.356712195143778 ExAC_delZ : -0.0864330321341482 ExAC_dupZ : -0.47763891227223 ExAC_synZ : -0.901559601243748 ExAC_misZ : -1.60183554334231 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55184 |
intron3-intron4Location : intron3-intron4 CytoBand : p11.23 Location2 : CDS Tx : XM_011529277 Tx_version : 3 Tx_start : 18383366 Tx_end : 18432929 Exon_count : 13 Overlapped_tx_length : 500 Overlapped_CDS_length : 165 Overlapped_CDS_percent : 12 Frameshift : no Dist_nearest_SS : 32 Nearest_SS_type : 3' Intersect_start : 18414044 Intersect_end : 18414544 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:18357770-18484726 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (ESF1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 676 Gene_count : 1 |
fullAnnotation_mode : full |
ESF1Gene_name : ESF1; LOEUF_bin : 2 GnomAD_pLI : 1.7818e-02 ExAC_pLI : 8.4445e-02 HI : . TS : . DDD_HI_percent : 29.14 ExAC_cnvZ : -0.612357943123988 ExAC_delZ : 0.118511275926083 ExAC_dupZ : -0.96756795437444 ExAC_synZ : -0.340242886246339 ExAC_misZ : -1.06031877197673 Closest_left : LOC124904872 Closest_right : NDUFAF5 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15156258; dbVar:nssv15161048; dbVar:nssv15606079 po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:7623474-14758379; 20:9811434-39316956; 20:11736178-19350411 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:13413087-13829480; chr20:13573123-13770225 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:13573123-13770225 dbVar po_B_gain_someG_coord : chr20:13413087-13829480 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13767245-13767545 Repeat_type_left : AluSq2 Gap_left : . GC_content_left : 0.345 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:13768341-13768605 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.500 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 676 |
splitAnnotation_mode : split |
ESF1Gene_name : ESF1; LOEUF_bin : 2 GnomAD_pLI : 1.7818e-02 ExAC_pLI : 8.4445e-02 HI : . TS : . DDD_HI_percent : 29.14 ACMG : . ExAC_cnvZ : -0.612357943123988 ExAC_delZ : 0.118511275926083 ExAC_dupZ : -0.96756795437444 ExAC_synZ : -0.340242886246339 ExAC_misZ : -1.06031877197673 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51575 |
intron7-intron7Location : intron7-intron7 CytoBand : p12.1 Location2 : CDS Tx : NM_001276380 Tx_version : 2 Tx_start : 13714324 Tx_end : 13784919 Exon_count : 14 Overlapped_tx_length : 676 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 648 Nearest_SS_type : 3' Intersect_start : 13767572 Intersect_end : 13768248 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:13413087-13829480; chr20:13573123-13770225 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (DNAAF9, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 67192 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/R[...]RE_gene : ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15145938; dbVar:nssv15147465; dbVar:nssv15161063; dbVar:nssv15152226; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15148916; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15146948; dbVar:nssv15148984; dbVar:nssv15134349 po_P_gain_coord : 20:80094-6386012; 20:80107-13029401; 20:80107-30227427; 20:80928-10505458; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:84403-6159078; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:140881-5584291; 20:1269304-8626911; 20:3059232-4187716 po_P_gain_percent : 1.07; 0.52; 0.22; 0.64; 0.26; 0.36; 0.10; 0.10; 0.10; 0.10; 1.11; 0.29; 0.22; 0.35; 0.35; 0.26; 0.22; 0.26; 0.10; 1.23; 0.91; 5.95 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:3227422-3413668 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:3227422-3413668 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3296154-3296264 Repeat_type_left : AluJb Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3362947-3363248; 20:3363249-3363316; 20:3363318-3363491 Repeat_type_right : AluSx; HAL1; AluSx Gap_right : . GC_content_right : 0.415 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 67192 |
splitAnnotation_mode : split |
intron6-intron23Location : intron6-intron23 CytoBand : p13 Location2 : CDS Tx : NM_001009984 Tx_version : 3 Tx_start : 3249305 Tx_end : 3407669 Exon_count : 37 Overlapped_tx_length : 67192 Overlapped_CDS_length : 1406 Overlapped_CDS_percent : 39 Frameshift : yes Dist_nearest_SS : 730 Nearest_SS_type : 5' Intersect_start : 3296130 Intersect_end : 3363322 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:3227422-3413668 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (SIRPD, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15145938; dbVar:nssv15147465; dbVar:nssv15161063; dbVar:nssv15152226; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15148916; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15146948; dbVar:nssv15148984 po_P_gain_coord : 20:80094-6386012; 20:80107-13029401; 20:80107-30227427; 20:80928-10505458; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:84403-6159078; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:140881-5584291; 20:1269304-8626911 po_P_gain_percent : 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:1509522-1569123 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:1509522-1569123 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.420 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:1551495-1551630 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.435 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 500 |
splitAnnotation_mode : split |
SIRPDGene_name : SIRPD; LOEUF_bin : 9 GnomAD_pLI : 3.9148e-08 ExAC_pLI : 7.7820e-05 HI : . TS : . DDD_HI_percent : 94.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.860981734552998 ExAC_misZ : -1.090752063684 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 128646 |
exon2-intron2Location : exon2-intron2 CytoBand : p13 Location2 : CDS Tx : NM_001410802 Tx_version : 1 Tx_start : 1534250 Tx_end : 1557705 Exon_count : 4 Overlapped_tx_length : 500 Overlapped_CDS_length : 9 Overlapped_CDS_percent : 1 Frameshift : no Dist_nearest_SS : 9 Nearest_SS_type : 5' Intersect_start : 1551199 Intersect_end : 1551699 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:1509522-1569123 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904947 Closest_right : LOC105376995 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.02; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:62506800-62506900 Repeat_type_left : MIR1_Amn Gap_left : . GC_content_left : 0.655 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.665 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 9333 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.05; 0.08; 0.08; 0.08; 0.12; 0.18; 0.12; 0.15; 0.13; 0.16; 0.15; 0.18 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:60908225-60912733 dbVar po_B_gain_someG_coord : 20:60907657-60907657 1000g |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60913659-60915233 Repeat_type_right : L1M4 Gap_right : . GC_content_right : 0.240 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 4535 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.04; 0.04; 0.06; 0.09; 0.06; 0.07; 0.06; 0.08; 0.08; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.410 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60898715-60899009; 20:60899010-60899337 Repeat_type_right : AluJb; L1ME4c Gap_right : . GC_content_right : 0.415 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 9470 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.05; 0.08; 0.09; 0.09; 0.12; 0.18; 0.12; 0.15; 0.13; 0.16; 0.16; 0.18 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60889604-60890048 Repeat_type_left : L2b Gap_left : . GC_content_left : 0.550 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60898715-60899009; 20:60899010-60899337 Repeat_type_right : AluJb; L1ME4c Gap_right : . GC_content_right : 0.415 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 16848 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.03; 0.03; 0.03; 0.03; 0.03; 0.09; 0.15; 0.15; 0.15; 0.21; 0.32; 0.21; 0.27; 0.24; 0.28; 0.28; 0.32 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469 Repeat_type_left : MER5B; LTR84a Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60898715-60899009; 20:60899010-60899337 Repeat_type_right : AluJb; L1ME4c Gap_right : . GC_content_right : 0.415 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 4455 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.04; 0.04; 0.06; 0.08; 0.06; 0.07; 0.06; 0.08; 0.07; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469 Repeat_type_left : MER5B; LTR84a Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60886611-60886662 Repeat_type_right : (ATACAG)n Gap_right : . GC_content_right : 0.315 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 4455 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.04; 0.04; 0.06; 0.08; 0.06; 0.07; 0.06; 0.08; 0.07; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469 Repeat_type_left : MER5B; LTR84a Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60886611-60886662 Repeat_type_right : (ATACAG)n Gap_right : . GC_content_right : 0.315 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 4455 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.04; 0.04; 0.06; 0.08; 0.06; 0.07; 0.06; 0.08; 0.07; 0.09 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469 Repeat_type_left : MER5B; LTR84a Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:60886611-60886662 Repeat_type_right : (ATACAG)n Gap_right : . GC_content_right : 0.315 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 3499 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.03; 0.03; 0.03; 0.04; 0.07; 0.04; 0.06; 0.05; 0.06; 0.06; 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469 Repeat_type_left : MER5B; LTR84a Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.535 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 3245 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.03; 0.03; 0.03; 0.04; 0.06; 0.04; 0.05; 0.05; 0.05; 0.05; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469 Repeat_type_left : MER5B; LTR84a Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.515 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 3245 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.03; 0.03; 0.03; 0.04; 0.06; 0.04; 0.05; 0.05; 0.05; 0.05; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469 Repeat_type_left : MER5B; LTR84a Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.515 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 3010 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372700 Closest_right : LINC01718 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.02; 0.03; 0.03; 0.03; 0.04; 0.06; 0.04; 0.05; 0.04; 0.05; 0.05; 0.06 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469 Repeat_type_left : MER5B; LTR84a Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.380 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 3349 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372692 Closest_right : LOC105372693 |
.Location : . CytoBand : q13.31 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089 po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.03; 0.03; 0.03; 0.04; 0.06; 0.04; 0.05; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:57284782-57956683; chr20:57550924-58372190 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:57550924-58372190 dbVar po_B_gain_someG_coord : chr20:57284782-57956683 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:57767173-57768587 Repeat_type_left : L1MEf Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:57770978-57771399 Repeat_type_right : L2b Gap_right : . GC_content_right : 0.580 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 823 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : PLTP Closest_right : LOC107985388 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784 po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:45918361-45941361 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:45918361-45941361 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:45927123-45927423 Repeat_type_left : AluSz Gap_left : . GC_content_left : 0.605 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:45927772-45928064 Repeat_type_right : AluJr Gap_right : . GC_content_right : 0.480 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 622 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904968 Closest_right : LINC01597 |
.Location : . CytoBand : q11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161655; dbVar:nssv15143157; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994; dbVar:nssv15161281; dbVar:nssv17969243; dbVar:nssv17969245; dbVar:nssv15126160 po_P_gain_coord : 20:80107-30227427; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87197-30403687; 20:89940-30285316; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274; 20:22061587-30285812; 20:24182140-33233051; 20:25461962-35173747; 20:25774465-40429426 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:29978531-30000000 Repeat_type_left : ALR/Alpha Gap_left : . GC_content_left : 0.355 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:29978531-30000000 Repeat_type_right : ALR/Alpha Gap_right : . GC_content_right : 0.390 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 2035 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : NDUFAF5 Closest_right : SEL1L2 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15156258; dbVar:nssv15161048; dbVar:nssv15606079 po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:7623474-14758379; 20:9811434-39316956; 20:11736178-19350411 po_P_gain_percent : 0.01; 0.01; 0.01; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.00; 0.03; 0.01; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:13845600-13845897 Repeat_type_left : AluSc Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:13847353-13847568 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.390 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 450 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : EBF4 Closest_right : CPXM1 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15145938; dbVar:nssv15147465; dbVar:nssv15161063; dbVar:nssv15152226; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15148916; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15146948; dbVar:nssv15148984 po_P_gain_coord : 20:80094-6386012; 20:80107-13029401; 20:80107-30227427; 20:80928-10505458; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:84403-6159078; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:140881-5584291; 20:1269304-8626911 po_P_gain_percent : 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:2777598-2777787; 20:2777822-2778123 Repeat_type_left : L1MD2; AluSx Gap_left : . GC_content_left : 0.395 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:2778134-2778179; 20:2778180-2778313; 20:2778314-2778953 Repeat_type_right : L1MB4; FLAM_A; L1MB4 Gap_right : . GC_content_right : 0.420 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 8687 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : NRSN2 Closest_right : TRIB3 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15145938; dbVar:nssv15147465; dbVar:nssv15161063; dbVar:nssv15152226; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15148916; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15132640; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15146948 po_P_gain_coord : 20:80094-6386012; 20:80107-13029401; 20:80107-30227427; 20:80928-10505458; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:84403-6159078; 20:87154-23635465; 20:87197-30403687; 20:89940-1028206; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:140881-5584291 po_P_gain_percent : 0.14; 0.07; 0.03; 0.08; 0.03; 0.05; 0.01; 0.01; 0.01; 0.01; 0.14; 0.04; 0.03; 0.93; 0.05; 0.05; 0.03; 0.03; 0.03; 0.01; 0.16 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr20:351809-370610 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:368742-369236 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:377627-377672; 20:377673-377978 Repeat_type_right : MIRb; AluSq Gap_right : . GC_content_right : 0.480 |
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3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 420 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : DEFB129 Closest_right : DEFB132 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15145938; dbVar:nssv15147465; dbVar:nssv15161063; dbVar:nssv15152226; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15148916; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15132640; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15146948 po_P_gain_coord : 20:80094-6386012; 20:80107-13029401; 20:80107-30227427; 20:80928-10505458; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:84403-6159078; 20:87154-23635465; 20:87197-30403687; 20:89940-1028206; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:140881-5584291 po_P_gain_percent : 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.04; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:95107-296217; chr20:137830-261754; chr20:137857-261536; chr20:254359-270859 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:137830-261754 dbVar; chr20:254359-270859 dbVar po_B_gain_someG_coord : chr20:95107-296217 dbVar; chr20:137857-261536 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:257055-257090; 20:257171-257491 Repeat_type_left : (ACAT)n; L1ME4a Gap_left : . GC_content_left : 0.295 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.485 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2D-1 (PANK2,+0.00): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and only the 3' untranslated region is involved. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 19349 Gene_count : 2 |
fullAnnotation_mode : full |
PANK2; RNF24; [...2genes]Gene_name : PANK2; RNF24; LOEUF_bin : 4 GnomAD_pLI : 3.0685e-02 ExAC_pLI : 8.9836e-01 HI : . TS : . DDD_HI_percent : 28.84 ExAC_cnvZ : -0.0203578433468488 ExAC_delZ : 0.570475716050219 ExAC_dupZ : 0.196010887583655 ExAC_synZ : 0.952926816679747 ExAC_misZ : 2.24228352593237 Closest_left : MIR103B2 Closest_right : SMOX |
.Location : . CytoBand : p13 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : HARP syndrome, 607236 (3) AR; Neurodegeneration with brain iron accumulation 1, 234200 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; morbid:PANK2 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:3889816-3929887 po_P_loss_percent : 0.34; 0.76; 0.14; 0.22; 10.77 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:3849918-3987827 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3925777-3925966 dbVar; chr20:3933948-3934054 dbVar po_B_loss_someG_coord : chr20:3849918-3987827 dbVar; chr20:3933000-3933281 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3925250-3925532; 20:3925543-3925624 Repeat_type_left : AluSx; L2 Gap_left : . GC_content_left : 0.565 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.345 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 19349 |
splitAnnotation_mode : split |
PANK2Gene_name : PANK2; LOEUF_bin : 5 GnomAD_pLI : 7.4034e-07 ExAC_pLI : 1.0792e-02 HI : . TS : . DDD_HI_percent : 28.84 ACMG : . ExAC_cnvZ : -0.0203578433468488 ExAC_delZ : -0.423791335769181 ExAC_dupZ : 0.196010887583655 ExAC_synZ : 0.952926816679747 ExAC_misZ : 2.24228352593237 GenCC_disease : hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; pantothenate kinase-associated neurodegeneration GenCC_moi : AR GenCC_classification : Definitive; Strong GenCC_pmid : 11479594; 12058097; 12510040; 20301663 NCBI_gene_ID : 80025 |
exon7-txEndLocation : exon7-txEnd CytoBand : p13 Location2 : 3'UTR Tx : NM_024960 Tx_version : 6 Tx_start : 3888780 Tx_end : 3929887 Exon_count : 7 Overlapped_tx_length : 4315 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2329 Nearest_SS_type : 3' Intersect_start : 3925572 Intersect_end : 3929887 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:3849918-3987827 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 19349 |
splitAnnotation_mode : split |
RNF24Gene_name : RNF24; LOEUF_bin : 4 GnomAD_pLI : 3.0685e-02 ExAC_pLI : 8.9836e-01 HI : . TS : . DDD_HI_percent : 19.35 ACMG : . ExAC_cnvZ : -0.0344790022611543 ExAC_delZ : 0.570475716050219 ExAC_dupZ : -0.380921029031456 ExAC_synZ : 0.476041339344003 ExAC_misZ : 0.657061930822663 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11237 |
intron4-txEndLocation : intron4-txEnd CytoBand : p13 Location2 : CDS-3'UTR Tx : XM_047439865 Tx_version : 1 Tx_start : 3927310 Tx_end : 3978082 Exon_count : 6 Overlapped_tx_length : 17611 Overlapped_CDS_length : 219 Overlapped_CDS_percent : 42 Frameshift : no Dist_nearest_SS : 255 Nearest_SS_type : 5' Intersect_start : 3927310 Intersect_end : 3944921 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:3849918-3987827 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2D-1 (PANK2,+0.00): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and only the 3' untranslated region is involved. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3560 Gene_count : 2 |
fullAnnotation_mode : full |
PANK2; RNF24; [...2genes]Gene_name : PANK2; RNF24; LOEUF_bin : 4 GnomAD_pLI : 3.0685e-02 ExAC_pLI : 8.9836e-01 HI : . TS : . DDD_HI_percent : 28.84 ExAC_cnvZ : -0.0203578433468488 ExAC_delZ : 0.570475716050219 ExAC_dupZ : 0.196010887583655 ExAC_synZ : 0.952926816679747 ExAC_misZ : 2.24228352593237 Closest_left : MIR103B2 Closest_right : SMOX |
.Location : . CytoBand : p13 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : HARP syndrome, 607236 (3) AR; Neurodegeneration with brain iron accumulation 1, 234200 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; morbid:PANK2 po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:3889816-3929887 po_P_loss_percent : 0.06; 0.14; 0.03; 0.04; 8.88 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:3849918-3987827 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:3925777-3925966 dbVar po_B_loss_someG_coord : chr20:3849918-3987827 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:3925250-3925532; 20:3925543-3925624 Repeat_type_left : AluSx; L2 Gap_left : . GC_content_left : 0.565 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:3928845-3929154; 20:3929193-3929407 Repeat_type_right : AluSx; AluJo Gap_right : . GC_content_right : 0.550 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 3560 |
splitAnnotation_mode : split |
PANK2Gene_name : PANK2; LOEUF_bin : 5 GnomAD_pLI : 7.4034e-07 ExAC_pLI : 1.0792e-02 HI : . TS : . DDD_HI_percent : 28.84 ACMG : . ExAC_cnvZ : -0.0203578433468488 ExAC_delZ : -0.423791335769181 ExAC_dupZ : 0.196010887583655 ExAC_synZ : 0.952926816679747 ExAC_misZ : 2.24228352593237 GenCC_disease : hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; pantothenate kinase-associated neurodegeneration GenCC_moi : AR GenCC_classification : Definitive; Strong GenCC_pmid : 11479594; 12058097; 12510040; 20301663 NCBI_gene_ID : 80025 |
exon7-exon7Location : exon7-exon7 CytoBand : p13 Location2 : 3'UTR Tx : NM_024960 Tx_version : 6 Tx_start : 3888780 Tx_end : 3929887 Exon_count : 7 Overlapped_tx_length : 3560 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2329 Nearest_SS_type : 3' Intersect_start : 3925572 Intersect_end : 3929132 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:3849918-3987827 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 3560 |
splitAnnotation_mode : split |
RNF24Gene_name : RNF24; LOEUF_bin : 4 GnomAD_pLI : 3.0685e-02 ExAC_pLI : 8.9836e-01 HI : . TS : . DDD_HI_percent : 19.35 ACMG : . ExAC_cnvZ : -0.0344790022611543 ExAC_delZ : 0.570475716050219 ExAC_dupZ : -0.380921029031456 ExAC_synZ : 0.476041339344003 ExAC_misZ : 0.657061930822663 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11237 |
exon6-txEndLocation : exon6-txEnd CytoBand : p13 Location2 : 3'UTR Tx : XM_047439865 Tx_version : 1 Tx_start : 3927310 Tx_end : 3978082 Exon_count : 6 Overlapped_tx_length : 1822 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5069 Nearest_SS_type : 3' Intersect_start : 3927310 Intersect_end : 3929132 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:3849918-3987827 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 75510 Gene_count : 2 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:54645B_loss_source : DDD:54645 B_loss_coord : 20:30185677-30402487 B_loss_AFmax : 0.0260 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 20:30185677-30402487 DDD:54645; chr20:30344579-30344679 dbVar; 20:30364669-30416335 DDD:54654; po_B_loss_someG_coord : 20:30185677-30317535 esv2763660; chr20:30343365-30343750 dbVar; chr20:30360675-30363394 HPRC:pbsv.DEL.2278; 20:30377432-30403659 CMRI:5_pbsv.DEL.533_duplicate7 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 20:30286389-30326112; 20:30286389-30335907; 20:30286389-30336431; 20:30286389-30346082; 20:30301374-30318811 Repeat_coord_left : 20:30310020-30310065 Repeat_type_left : (TGTTTC)n Gap_left : . GC_content_left : 0.310 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:30346079-30399907; 20:30346079-30424678; 20:30346079-30425126; 20:30346084-30392621; 20:30346084-30401216; 20:30346084-30425128; 20:30346085-30417150; 20:30371988-30416930; 20:30380348-30421728 Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.435 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 75510 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q11.1 Location2 : UTR Tx : NR_187586 Tx_version : 1 Tx_start : 30323310 Tx_end : 30361975 Exon_count : 5 Overlapped_tx_length : 38665 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 30323310 Intersect_end : 30361975 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:54645B_loss_source : DDD:54645 B_loss_coord : 20:30185677-30402487 B_loss_AFmax : 0.0260 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 75510 |
splitAnnotation_mode : split |
txStart-intron2Location : txStart-intron2 CytoBand : q11.1 Location2 : UTR Tx : NR_003579 Tx_version : 2 Tx_start : 30377163 Tx_end : 30399335 Exon_count : 8 Overlapped_tx_length : 8405 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2884 Nearest_SS_type : 3' Intersect_start : 30377163 Intersect_end : 30385568 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:54645; DDD:54654B_loss_source : DDD:54645; DDD:54654 B_loss_coord : 20:30185677-30402487; 20:30364669-30416335 B_loss_AFmax : 0.0497 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 883 Gene_count : 1 |
fullAnnotation_mode : full |
PTGISGene_name : PTGIS; LOEUF_bin : 6 GnomAD_pLI : 1.1970e-09 ExAC_pLI : 2.4233e-05 HI : . TS : . DDD_HI_percent : 65.68 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.636834400784232 ExAC_synZ : 0.275099413688182 ExAC_misZ : -0.751268886668729 Closest_left : KCNB1 Closest_right : LOC101927486 |
.Location : . CytoBand : q13.13 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
KCNB1 (morbid/RE=EA_enhancer); ZNFX1 (morbid/[...]RE_gene : KCNB1 (morbid/RE=EA_enhancer); ZNFX1 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Hypertension, essential, 145500 (3) Multifactorial po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226; morbid:PTGIS po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110; 20:49524851-49568137 po_P_loss_percent : 0.02; 0.02; 0.04; 0.03; 2.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:49534334-49562349; chr20:49534478-49562489 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:49534478-49562489 dbVar; po_B_loss_someG_coord : chr20:49534334-49562349 dbVar; chr20:49551394-49551653 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49550922-49551224; 20:49551226-49551702 Repeat_type_left : AluSz; MER4B Gap_left : . GC_content_left : 0.475 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49551848-49552497 Repeat_type_right : MER4-int Gap_right : . GC_content_right : 0.430 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 883 |
splitAnnotation_mode : split |
PTGISGene_name : PTGIS; LOEUF_bin : 6 GnomAD_pLI : 1.1970e-09 ExAC_pLI : 2.4233e-05 HI : . TS : . DDD_HI_percent : 65.68 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.636834400784232 ExAC_synZ : 0.275099413688182 ExAC_misZ : -0.751268886668729 GenCC_disease : essential hypertension, genetic GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 12372404; 31453292; 32236489; 9217767 NCBI_gene_ID : 5740 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : CDS Tx : NM_000961 Tx_version : 4 Tx_start : 49503873 Tx_end : 49568137 Exon_count : 10 Overlapped_tx_length : 883 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 951 Nearest_SS_type : 3' Intersect_start : 49551140 Intersect_end : 49552023 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:49534334-49562349; chr20:49534478-49562489 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.22 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:AHCY po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34280268-34311836 po_P_loss_percent : 0.00; 0.02; 0.01; 1.58 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:34292840-34293905 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:34292840-34293905 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:34292641-34292815 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.575 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:34293398-34293485 Repeat_type_right : AluSz6 Gap_right : . GC_content_right : 0.510 |
|||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
AHCYGene_name : AHCY; LOEUF_bin : 3 GnomAD_pLI : 3.5922e-02 ExAC_pLI : 9.4407e-01 HI : 30 TS : 0 DDD_HI_percent : 18.88 ACMG : . ExAC_cnvZ : -2.18693174638708 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -1.71698637074454 ExAC_synZ : -0.185281858750464 ExAC_misZ : 2.04452899953228 GenCC_disease : hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 15024124; 16435181[PMID]; 19177456; 20852937; 22959829; 26527160 NCBI_gene_ID : 191 |
intron3-intron3Location : intron3-intron3 CytoBand : q11.22 Location2 : CDS Tx : XM_047439962 Tx_version : 1 Tx_start : 34231980 Tx_end : 34303355 Exon_count : 11 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 400 Nearest_SS_type : 3' Intersect_start : 34292907 Intersect_end : 34293407 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:34292840-34293905 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1389 Gene_count : 1 |
fullAnnotation_mode : full |
SNTA1Gene_name : SNTA1; LOEUF_bin : 3 GnomAD_pLI : 5.6417e-03 ExAC_pLI : 4.2824e-01 HI : . TS : . DDD_HI_percent : 24.92 ExAC_cnvZ : -1.95181405674932 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -1.13064045953842 ExAC_synZ : 0.386342937511477 ExAC_misZ : 0.795193530720746 Closest_left : LOC124904889 Closest_right : CBFA2T2 |
.Location : . CytoBand : q11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : Long QT syndrome 12, 612955 (3) AD po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; morbid:SNTA1 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33407957-33443763 po_P_loss_percent : 0.01; 0.04; 3.88 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:33409542-33561500 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:33409542-33561500 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33421019-33421200; 20:33421210-33421329 Repeat_type_left : AluJb; MIR Gap_left : . GC_content_left : 0.480 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:33422161-33422466; 20:33422498-33422772 Repeat_type_right : AluSc; AluJb Gap_right : . GC_content_right : 0.510 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 1389 |
splitAnnotation_mode : split |
SNTA1Gene_name : SNTA1; LOEUF_bin : 3 GnomAD_pLI : 5.6417e-03 ExAC_pLI : 4.2824e-01 HI : . TS : . DDD_HI_percent : 24.92 ACMG : . ExAC_cnvZ : -1.95181405674932 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -1.13064045953842 ExAC_synZ : 0.386342937511477 ExAC_misZ : 0.795193530720746 GenCC_disease : long QT syndrome; long QT syndrome 12 GenCC_moi : AD GenCC_classification : Disputed Evidence; Limited GenCC_pmid : 18591664; 19684871; 19862833; 20009079; 23376825; 24319568; 27028743; 28416588; 28600387; 28837624 NCBI_gene_ID : 6640 |
intron2-intron2Location : intron2-intron2 CytoBand : q11.21 Location2 : CDS Tx : XM_024451971 Tx_version : 2 Tx_start : 33407956 Tx_end : 33441312 Exon_count : 8 Overlapped_tx_length : 1389 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3203 Nearest_SS_type : 3' Intersect_start : 33421126 Intersect_end : 33422515 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:33409542-33561500 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 1 |
fullAnnotation_mode : full |
CDH4Gene_name : CDH4; LOEUF_bin : 1 GnomAD_pLI : 7.4348e-01 ExAC_pLI : 9.6699e-01 HI : . TS : . DDD_HI_percent : 36.97 ExAC_cnvZ : 0.359975831988571 ExAC_delZ : 1.0263721335426 ExAC_dupZ : -0.0547762026548261 ExAC_synZ : 0.441877137052085 ExAC_misZ : 2.49014599267761 Closest_left : LOC105372703 Closest_right : LOC100128310 |
.Location : . CytoBand : q13.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:61454236-61685901 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:61454236-61685901 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:61637066-61637109; 20:61637124-61637209 Repeat_type_left : (TTTTG)n; L1MC4a Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:61637739-61638061 Repeat_type_right : AluSq Gap_right : . GC_content_right : 0.495 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
CDH4Gene_name : CDH4; LOEUF_bin : 1 GnomAD_pLI : 7.4348e-01 ExAC_pLI : 9.6699e-01 HI : . TS : . DDD_HI_percent : 36.97 ACMG : . ExAC_cnvZ : 0.359975831988571 ExAC_delZ : 1.0263721335426 ExAC_dupZ : -0.0547762026548261 ExAC_synZ : 0.441877137052085 ExAC_misZ : 2.49014599267761 GenCC_disease : multiple congenital anomalies/dysmorphic syndrome GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 1002 |
intron2-intron2Location : intron2-intron2 CytoBand : q13.33 Location2 : CDS Tx : NM_001794 Tx_version : 5 Tx_start : 61252260 Tx_end : 61940617 Exon_count : 16 Overlapped_tx_length : 1000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 105535 Nearest_SS_type : 3' Intersect_start : 61637027 Intersect_end : 61638027 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:61454236-61685901 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2087 Gene_count : 1 |
fullAnnotation_mode : full |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 Closest_left : CSE1L Closest_right : DDX27 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.04; 0.05; 0.09; 0.08 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:49210026-49218326 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:49210026-49218326 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49210776-49210798; 20:49210799-49211375 Repeat_type_left : FAM; L1MB5 Gap_left : . GC_content_left : 0.305 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49212616-49212897; 20:49212997-49213228 Repeat_type_right : AluSp; AluJb Gap_right : . GC_content_right : 0.395 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 2087 |
splitAnnotation_mode : split |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6780 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : 5'UTR Tx : NM_001319135 Tx_version : 2 Tx_start : 49113338 Tx_end : 49219295 Exon_count : 15 Overlapped_tx_length : 2087 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6310 Nearest_SS_type : 5' Intersect_start : 49210838 Intersect_end : 49212925 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:49210026-49218326 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1316 Gene_count : 1 |
fullAnnotation_mode : full |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 Closest_left : CSE1L Closest_right : DDX27 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.02; 0.03; 0.06; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:49210026-49218326 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:49210026-49218326 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49210776-49210798; 20:49210799-49211375 Repeat_type_left : FAM; L1MB5 Gap_left : . GC_content_left : 0.305 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49211990-49212286 Repeat_type_right : AluJb Gap_right : . GC_content_right : 0.515 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 1316 |
splitAnnotation_mode : split |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6780 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : 5'UTR Tx : NM_001319135 Tx_version : 2 Tx_start : 49113338 Tx_end : 49219295 Exon_count : 15 Overlapped_tx_length : 1316 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7081 Nearest_SS_type : 5' Intersect_start : 49210838 Intersect_end : 49212154 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:49210026-49218326 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 Closest_left : CSE1L Closest_right : DDX27 |
.Location : . CytoBand : q13.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226 po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110 po_P_loss_percent : 0.01; 0.01; 0.02; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:49210026-49218326 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:49210026-49218326 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:49210776-49210798; 20:49210799-49211375 Repeat_type_left : FAM; L1MB5 Gap_left : . GC_content_left : 0.305 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:49210799-49211375; 20:49211376-49211505 Repeat_type_right : L1MB5; FAM Gap_right : . GC_content_right : 0.390 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
STAU1Gene_name : STAU1; LOEUF_bin : 0 GnomAD_pLI : 9.9976e-01 ExAC_pLI : 9.9642e-01 HI : . TS : . DDD_HI_percent : 10.91 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.79591240511594 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.823841250039382 ExAC_misZ : 1.71860585563274 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6780 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.13 Location2 : 5'UTR Tx : NM_001319135 Tx_version : 2 Tx_start : 49113338 Tx_end : 49219295 Exon_count : 15 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7897 Nearest_SS_type : 5' Intersect_start : 49210838 Intersect_end : 49211338 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:49210026-49218326 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 301 Gene_count : 1 |
fullAnnotation_mode : full |
NCOA3Gene_name : NCOA3; LOEUF_bin : 1 GnomAD_pLI : 5.4065e-01 ExAC_pLI : 9.9992e-01 HI : . TS : . DDD_HI_percent : 16.22 ExAC_cnvZ : 1.4781806390142e-05 ExAC_delZ : -1.25129113368909 ExAC_dupZ : 0.967094670097161 ExAC_synZ : -0.511158738801683 ExAC_misZ : -0.505371555325067 Closest_left : LINC01754 Closest_right : SULF2 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv17955881 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:44356405-49982509 po_P_loss_percent : 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:47537836-47543309 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:47537836-47543309 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:47538547-47538843 Repeat_type_left : AluSg Gap_left : . GC_content_left : 0.340 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:47538547-47538843 Repeat_type_right : AluSg Gap_right : . GC_content_right : 0.460 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 301 |
splitAnnotation_mode : split |
NCOA3Gene_name : NCOA3; LOEUF_bin : 1 GnomAD_pLI : 5.4065e-01 ExAC_pLI : 9.9992e-01 HI : . TS : . DDD_HI_percent : 16.22 ACMG : . ExAC_cnvZ : 1.4781806390142e-05 ExAC_delZ : -1.25129113368909 ExAC_dupZ : 0.967094670097161 ExAC_synZ : -0.511158738801683 ExAC_misZ : -0.505371555325067 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8202 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.12 Location2 : 5'UTR Tx : NM_001174087 Tx_version : 2 Tx_start : 47501886 Tx_end : 47656872 Exon_count : 23 Overlapped_tx_length : 301 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 36477 Nearest_SS_type : 5' Intersect_start : 47538496 Intersect_end : 47538797 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:47537836-47543309 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 704 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.00; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:37103505-37123121 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:37103505-37123121 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:37121180-37121225; 20:37121227-37121532 Repeat_type_left : (TCTTTT)n; AluSx Gap_left : . GC_content_left : 0.485 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:37121771-37121957; 20:37121958-37122239 Repeat_type_right : AluJr; AluJb Gap_right : . GC_content_right : 0.475 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 704 |
splitAnnotation_mode : split |
MROH8Gene_name : MROH8; LOEUF_bin : 4 GnomAD_pLI : 3.3158e-16 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 69.39 ACMG : . ExAC_cnvZ : -0.93782042275729 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.857993812084429 ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140699 |
intron15-intron15Location : intron15-intron15 CytoBand : q11.23 Location2 : CDS Tx : NM_152503 Tx_version : 8 Tx_start : 37101166 Tx_end : 37179548 Exon_count : 25 Overlapped_tx_length : 704 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 285 Nearest_SS_type : 3' Intersect_start : 37121321 Intersect_end : 37122025 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:37103505-37123121 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1429 Gene_count : 1 |
fullAnnotation_mode : full |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 Closest_left : SNTA1 Closest_right : NECAB3 |
.Location : . CytoBand : q11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881 po_P_loss_percent : 0.01; 0.05; 0.04 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:33586659-33597547; chr20:33586676-33597548 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:33586676-33597548 dbVar; po_B_loss_someG_coord : chr20:33586659-33597547 dbVar; chr20:33590169-33590317 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33588665-33588970 Repeat_type_left : AluSz Gap_left : . GC_content_left : 0.345 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.395 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 1429 |
splitAnnotation_mode : split |
CBFA2T2Gene_name : CBFA2T2; LOEUF_bin : 0 GnomAD_pLI : 9.9585e-01 ExAC_pLI : 9.9936e-01 HI : . TS : . DDD_HI_percent : 29.51 ACMG : . ExAC_cnvZ : -1.41702937703016 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.106493023926055 ExAC_synZ : -0.165134997894128 ExAC_misZ : 2.71892637567166 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9139 |
intron1-intron1Location : intron1-intron1 CytoBand : q11.22 Location2 : CDS Tx : NM_001032999 Tx_version : 3 Tx_start : 33490095 Tx_end : 33650030 Exon_count : 11 Overlapped_tx_length : 1429 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 16522 Nearest_SS_type : 3' Intersect_start : 33589004 Intersect_end : 33590433 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:33586659-33597547; chr20:33586676-33597548 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1051 Gene_count : 1 |
fullAnnotation_mode : full |
BPIFB3Gene_name : BPIFB3; LOEUF_bin : 7 GnomAD_pLI : 3.6763e-13 ExAC_pLI : 1.2701e-05 HI : . TS : . DDD_HI_percent : 72.06 ExAC_cnvZ : -1.5926808300207 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.247525500012051 ExAC_synZ : 0.148474694246789 ExAC_misZ : -0.676082883446531 Closest_left : BPIFB6 Closest_right : BPIFB4 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500 po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288 po_P_loss_percent : 0.01; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:33064626-33075377 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:33064626-33075377 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:33068044-33068600 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.505 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.625 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 1051 |
splitAnnotation_mode : split |
BPIFB3Gene_name : BPIFB3; LOEUF_bin : 7 GnomAD_pLI : 3.6763e-13 ExAC_pLI : 1.2701e-05 HI : . TS : . DDD_HI_percent : 72.06 ACMG : . ExAC_cnvZ : -1.5926808300207 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.247525500012051 ExAC_synZ : 0.148474694246789 ExAC_misZ : -0.676082883446531 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 359710 |
intron10-intron11Location : intron10-intron11 CytoBand : q11.21 Location2 : CDS Tx : NM_001376932 Tx_version : 3 Tx_start : 33053902 Tx_end : 33073847 Exon_count : 16 Overlapped_tx_length : 1051 Overlapped_CDS_length : 171 Overlapped_CDS_percent : 12 Frameshift : no Dist_nearest_SS : 230 Nearest_SS_type : 5' Intersect_start : 33068152 Intersect_end : 33069203 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:33064626-33075377 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3150 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:54645B_loss_source : DDD:54645 B_loss_coord : 20:30185677-30402487 B_loss_AFmax : 0.0260 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : 20:30185677-30402487 DDD:54645 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 20:30286389-30346082; 20:30335906-30345780; 20:30335906-30345780; 20:30335906-30345815; 20:30335906-30346082; 20:30337808-30346082; 20:30337809-30345815; 20:30337809-30345815; 20:30337818-30345815; 20:30340869-30345815; 20:30340869-30345815; 20:30344195-30346082; 20:30344195-30346082; 20:30344195-30346082; 20:30344214-30345427; 20:30344245-30380503 Repeat_coord_left : 20:30344788-30344933 Repeat_type_left : AluJr4 Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:30344245-30380503; 20:30346079-30364390; 20:30346079-30399907; 20:30346079-30424678; 20:30346079-30425126; 20:30346084-30392621; 20:30346084-30401216; 20:30346084-30425128; 20:30346085-30417150; 20:30346101-30353899; 20:30347157-30351275 Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.490 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 3150 |
splitAnnotation_mode : split |
intron3-intron3Location : intron3-intron3 CytoBand : q11.1 Location2 : UTR Tx : NR_187586 Tx_version : 1 Tx_start : 30323310 Tx_end : 30361975 Exon_count : 5 Overlapped_tx_length : 3150 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2223 Nearest_SS_type : 5' Intersect_start : 30344958 Intersect_end : 30348108 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:54645B_loss_source : DDD:54645 B_loss_coord : 20:30185677-30402487 B_loss_AFmax : 0.0260 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2230 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:54621; dbVarB_loss_source : DDD:54621; dbVar B_loss_coord : chr20:25952263-26077964; 20:26059252-26119457 B_loss_AFmax : 0.0284 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 20:26059252-26119457 DDD:54621 po_B_loss_someG_coord : chr20:25952263-26077964 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 20:26010758-26103777; 20:26055373-26072697; 20:26056711-26189680; 20:26058784-26145928 Repeat_coord_left : 20:26060877-26061849 Repeat_type_left : SST1 Gap_left : . GC_content_left : 0.560 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:26010758-26103777; 20:26055373-26072697; 20:26056711-26189680; 20:26058784-26145928 Repeat_coord_right : 20:26062672-26064073 Repeat_type_right : SST1 Gap_right : . GC_content_right : 0.645 |
||
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 2230 |
splitAnnotation_mode : split |
intron1-intron1Location : intron1-intron1 CytoBand : p11.1 Location2 : UTR Tx : NR_026713 Tx_version : 1 Tx_start : 26054613 Tx_end : 26086917 Exon_count : 5 Overlapped_tx_length : 2230 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5138 Nearest_SS_type : 3' Intersect_start : 26061548 Intersect_end : 26063778 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:54621; dbVarB_loss_source : DDD:54621; dbVar B_loss_coord : chr20:25952263-26077964; 20:26059252-26119457 B_loss_AFmax : 0.0284 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 808 Gene_count : 1 |
fullAnnotation_mode : full |
LINC02967Gene_name : LINC02967; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904881 Closest_right : CST7 |
.Location : . CytoBand : p11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664 po_P_loss_coord : 20:18520274-25866684 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:24919864-24932614 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:24919864-24932614 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:24927945-24932579 Repeat_type_left : HERVE-int Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:24927945-24932579 Repeat_type_right : HERVE-int Gap_right : . GC_content_right : 0.540 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 808 |
splitAnnotation_mode : split |
LINC02967Gene_name : LINC02967; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105372578 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.21 Location2 : UTR Tx : XR_001754563 Tx_version : 2 Tx_start : 24918563 Tx_end : 24932985 Exon_count : 3 Overlapped_tx_length : 808 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 177 Nearest_SS_type : 3' Intersect_start : 24929653 Intersect_end : 24930461 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:24919864-24932614 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
SYNDIG1Gene_name : SYNDIG1; LOEUF_bin : 4 GnomAD_pLI : 3.0249e-01 ExAC_pLI : 4.3364e-01 HI : . TS : . DDD_HI_percent : 51.02 ExAC_cnvZ : 0.673932505046786 ExAC_delZ : 1.12306016668155 ExAC_dupZ : 0.292572732167135 ExAC_synZ : -0.0749327169610391 ExAC_misZ : 0.518534426421545 Closest_left : LOC105372577 Closest_right : LOC107985402 |
.Location : . CytoBand : p11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664 po_P_loss_coord : 20:18520274-25866684 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:24092364-24552364; chr20:24521298-24528572 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:24521298-24528572 dbVar po_B_loss_someG_coord : chr20:24092364-24552364 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.465 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:24524364-24524661 Repeat_type_right : AluY Gap_right : . GC_content_right : 0.495 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
SYNDIG1Gene_name : SYNDIG1; LOEUF_bin : 4 GnomAD_pLI : 3.0249e-01 ExAC_pLI : 4.3364e-01 HI : . TS : . DDD_HI_percent : 51.02 ACMG : . ExAC_cnvZ : 0.673932505046786 ExAC_delZ : 1.12306016668155 ExAC_dupZ : 0.292572732167135 ExAC_synZ : -0.0749327169610391 ExAC_misZ : 0.518534426421545 GenCC_disease : Tourette syndrome GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : 28472652 NCBI_gene_ID : 79953 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.21 Location2 : 5'UTR Tx : XM_017028069 Tx_version : 3 Tx_start : 24469628 Tx_end : 24548629 Exon_count : 3 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 18615 Nearest_SS_type : 3' Intersect_start : 24523904 Intersect_end : 24524404 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:24092364-24552364; chr20:24521298-24528572 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 824 Gene_count : 1 |
fullAnnotation_mode : full |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 Closest_left : KIZ-AS1 Closest_right : NKX2-4 |
.Location : . CytoBand : p11.22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.01; 0.02; 0.01; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; CMRI:0_pbsv.DEL.272_duplicate6; HPRC:p[...]B_loss_source : 1000g; CMRI:0_pbsv.DEL.272_duplicate6; HPRC:pbsv.DEL.1568; IMH; dbVar; esv3645493; gnomAD-SV_v3_DEL_chr20_e3266c33 B_loss_coord : 20:21305086-21308265; chr20:21305200-21308111; chr20:21305263-21307941; chr20:21305450-21308134; 20:21305451-21308134; 20:21305451-21308134; 20:21305452-21308134; chr20:21305452-21308134; chr20:21305489-21308111 B_loss_AFmax : 0.8609 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:21305200-21308111 gnomAD-SV_v3_DEL_chr20_e3266c33; chr20:21305450-21308134 dbVar; 20:21305451-21308134 esv3645493; chr20:21305452-21308134 HPRC:pbsv.DEL.1568; 20:21306665-21307434 nsv514936 po_B_loss_someG_coord : 20:21305086-21308265 IMH; chr20:21305263-21307941 dbVar; 20:21305451-21308134 1000g; 20:21305452-21308134 CMRI:0_pbsv.DEL.272_duplicate6; chr20:21305489-21308111 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:21306550-21306670; 20:21306728-21307011 Repeat_type_left : MIR; AluSc Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:21307472-21307534; 20:21307535-21307634 Repeat_type_right : L1MA9; FRAM Gap_right : . GC_content_right : 0.370 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 824 |
splitAnnotation_mode : split |
XRN2Gene_name : XRN2; LOEUF_bin : 1 GnomAD_pLI : 3.4851e-01 ExAC_pLI : 8.1317e-01 HI : . TS : . DDD_HI_percent : 12.25 ACMG : . ExAC_cnvZ : 0.917232134785784 ExAC_delZ : 1.00657149428705 ExAC_dupZ : 0.677183425574012 ExAC_synZ : -0.12051212357163 ExAC_misZ : 2.06750925601165 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22803 |
intron1-intron1Location : intron1-intron1 CytoBand : p11.22 Location2 : CDS Tx : NM_012255 Tx_version : 5 Tx_start : 21303330 Tx_end : 21389825 Exon_count : 30 Overlapped_tx_length : 824 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3192 Nearest_SS_type : 5' Intersect_start : 21306665 Intersect_end : 21307489 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; CMRI:0_pbsv.DEL.272_duplicate6; HPRC:p[...]B_loss_source : 1000g; CMRI:0_pbsv.DEL.272_duplicate6; HPRC:pbsv.DEL.1568; IMH; dbVar; esv3645493; gnomAD-SV_v3_DEL_chr20_e3266c33 B_loss_coord : 20:21305086-21308265; chr20:21305200-21308111; chr20:21305263-21307941; chr20:21305450-21308134; 20:21305451-21308134; 20:21305451-21308134; 20:21305452-21308134; chr20:21305452-21308134; chr20:21305489-21308111 B_loss_AFmax : 0.8609 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2445 Gene_count : 1 |
fullAnnotation_mode : full |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 Closest_left : INSM1 Closest_right : LOC105372555 |
.Location : . CytoBand : p11.23 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241 po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759 po_P_loss_percent : 0.02; 0.07; 0.03; 0.08 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:20612004-20621006 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:20612004-20621006 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.285 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:20617958-20618157 Repeat_type_right : MER6B Gap_right : . GC_content_right : 0.470 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 2445 |
splitAnnotation_mode : split |
RALGAPA2Gene_name : RALGAPA2; LOEUF_bin : 3 GnomAD_pLI : 3.0325e-17 ExAC_pLI : 8.4878e-06 HI : . TS : . DDD_HI_percent : 22.17 ACMG : . ExAC_cnvZ : 1.13438908095725 ExAC_delZ : 0.735250320482795 ExAC_dupZ : 1.13402489714326 ExAC_synZ : -2.26507883160964 ExAC_misZ : -1.04803050468324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57186 |
intron12-intron13Location : intron12-intron13 CytoBand : p11.23 Location2 : CDS Tx : NM_020343 Tx_version : 4 Tx_start : 20389529 Tx_end : 20712644 Exon_count : 40 Overlapped_tx_length : 2445 Overlapped_CDS_length : 149 Overlapped_CDS_percent : 2 Frameshift : yes Dist_nearest_SS : 232 Nearest_SS_type : 5' Intersect_start : 20615810 Intersect_end : 20618255 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:20612004-20621006 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 3243 Gene_count : 1 |
fullAnnotation_mode : full |
KIF16BGene_name : KIF16B; LOEUF_bin : 4 GnomAD_pLI : 2.1000e-19 ExAC_pLI : 4.3534e-13 HI : . TS : . DDD_HI_percent : 44.94 ExAC_cnvZ : -1.16189573124657 ExAC_delZ : -1.60172301045439 ExAC_dupZ : -1.02936418591749 ExAC_synZ : 0.550930180287603 ExAC_misZ : 1.01862143775346 Closest_left : LOC124904874 Closest_right : LOC124904875 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.02; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:16345165-16460582 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:16345165-16460582 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:16348305-16348421 Repeat_type_left : MIR3 Gap_left : . GC_content_left : 0.335 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.500 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 3243 |
splitAnnotation_mode : split |
KIF16BGene_name : KIF16B; LOEUF_bin : 4 GnomAD_pLI : 2.1000e-19 ExAC_pLI : 4.3534e-13 HI : . TS : . DDD_HI_percent : 44.94 ACMG : . ExAC_cnvZ : -1.16189573124657 ExAC_delZ : -1.60172301045439 ExAC_dupZ : -1.02936418591749 ExAC_synZ : 0.550930180287603 ExAC_misZ : 1.01862143775346 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55614 |
intron22-intron22Location : intron22-intron22 CytoBand : p12.1 Location2 : CDS Tx : NM_001199865 Tx_version : 2 Tx_start : 16272103 Tx_end : 16573448 Exon_count : 25 Overlapped_tx_length : 3243 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 4850 Nearest_SS_type : 5' Intersect_start : 16348236 Intersect_end : 16351479 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:16345165-16460582 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 985 Gene_count : 1 |
fullAnnotation_mode : full |
KIF16BGene_name : KIF16B; LOEUF_bin : 4 GnomAD_pLI : 2.1000e-19 ExAC_pLI : 4.3534e-13 HI : . TS : . DDD_HI_percent : 44.94 ExAC_cnvZ : -1.16189573124657 ExAC_delZ : -1.60172301045439 ExAC_dupZ : -1.02936418591749 ExAC_synZ : 0.550930180287603 ExAC_misZ : 1.01862143775346 Closest_left : LOC124904874 Closest_right : LOC124904875 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:16345165-16460582 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:16345165-16460582 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.360 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:16348597-16349409 Repeat_type_right : LTR102_Mam Gap_right : . GC_content_right : 0.390 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 985 |
splitAnnotation_mode : split |
KIF16BGene_name : KIF16B; LOEUF_bin : 4 GnomAD_pLI : 2.1000e-19 ExAC_pLI : 4.3534e-13 HI : . TS : . DDD_HI_percent : 44.94 ACMG : . ExAC_cnvZ : -1.16189573124657 ExAC_delZ : -1.60172301045439 ExAC_dupZ : -1.02936418591749 ExAC_synZ : 0.550930180287603 ExAC_misZ : 1.01862143775346 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55614 |
intron22-intron22Location : intron22-intron22 CytoBand : p12.1 Location2 : CDS Tx : NM_001199865 Tx_version : 2 Tx_start : 16272103 Tx_end : 16573448 Exon_count : 25 Overlapped_tx_length : 985 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 7608 Nearest_SS_type : 5' Intersect_start : 16347736 Intersect_end : 16348721 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:16345165-16460582 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
KIF16BGene_name : KIF16B; LOEUF_bin : 4 GnomAD_pLI : 2.1000e-19 ExAC_pLI : 4.3534e-13 HI : . TS : . DDD_HI_percent : 44.94 ExAC_cnvZ : -1.16189573124657 ExAC_delZ : -1.60172301045439 ExAC_dupZ : -1.02936418591749 ExAC_synZ : 0.550930180287603 ExAC_misZ : 1.01862143775346 Closest_left : LOC124904874 Closest_right : LOC124904875 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:16345165-16460582 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:16345165-16460582 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.360 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:16348305-16348421 Repeat_type_right : MIR3 Gap_right : . GC_content_right : 0.335 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
KIF16BGene_name : KIF16B; LOEUF_bin : 4 GnomAD_pLI : 2.1000e-19 ExAC_pLI : 4.3534e-13 HI : . TS : . DDD_HI_percent : 44.94 ACMG : . ExAC_cnvZ : -1.16189573124657 ExAC_delZ : -1.60172301045439 ExAC_dupZ : -1.02936418591749 ExAC_synZ : 0.550930180287603 ExAC_misZ : 1.01862143775346 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55614 |
intron22-intron22Location : intron22-intron22 CytoBand : p12.1 Location2 : CDS Tx : NM_001199865 Tx_version : 2 Tx_start : 16272103 Tx_end : 16573448 Exon_count : 25 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 8093 Nearest_SS_type : 5' Intersect_start : 16347736 Intersect_end : 16348236 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:16345165-16460582 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
MACROD2Gene_name : MACROD2; LOEUF_bin : 2 GnomAD_pLI : 4.3472e-01 ExAC_pLI : 1.1357e-02 HI : . TS : . DDD_HI_percent : 1.49 ExAC_cnvZ : -0.692742758341261 ExAC_delZ : -1.18278709618643 ExAC_dupZ : -0.597815534527543 ExAC_synZ : 0.337580800459273 ExAC_misZ : 0.372539789325987 Closest_left : MACROD2-IT1 Closest_right : MACROD2-AS1 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567; dbVar:nssv15145452; dbVar:nssv15145224 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012; 20:14631585-14707775; 20:14656735-14876708 po_P_loss_percent : 0.00; 0.00; 0.66; 0.23 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:14567859-14791891; chr20:14574066-14695632; chr20:14579243-14675490; chr20:14609532-14707584; chr20:14613766-14772847; chr20:14628849-14822341; chr20:14630559-14798423; chr20:14637816-14677868 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:14574066-14695632 dbVar; chr20:14609532-14707584 dbVar; chr20:14628849-14822341 dbVar; chr20:14637816-14677868 dbVar po_B_loss_someG_coord : chr20:14567859-14791891 dbVar; chr20:14579243-14675490 dbVar; chr20:14613766-14772847 dbVar; chr20:14630559-14798423 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:14665127-14665220 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.310 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
MACROD2Gene_name : MACROD2; LOEUF_bin : 2 GnomAD_pLI : 4.3472e-01 ExAC_pLI : 1.1357e-02 HI : . TS : . DDD_HI_percent : 1.49 ACMG : . ExAC_cnvZ : -0.692742758341261 ExAC_delZ : -1.18278709618643 ExAC_dupZ : -0.597815534527543 ExAC_synZ : 0.337580800459273 ExAC_misZ : 0.372539789325987 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140733 |
intron4-intron4Location : intron4-intron4 CytoBand : p12.1 Location2 : CDS Tx : NM_001351661 Tx_version : 2 Tx_start : 13995515 Tx_end : 16053197 Exon_count : 18 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 19105 Nearest_SS_type : 3' Intersect_start : 14665237 Intersect_end : 14665737 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:14567859-14791891; chr20:14574066-14695632; chr20:14579243-14675490; chr20:14609532-14707584; chr20:14613766-14772847; chr20:14628849-14822341; chr20:14630559-14798423; chr20:14637816-14677868 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
SLX4IPGene_name : SLX4IP; LOEUF_bin : 8 GnomAD_pLI : 1.7889e-12 ExAC_pLI : 2.3388e-05 HI : . TS : . DDD_HI_percent : 38.46 ExAC_cnvZ : 0.683703266516 ExAC_delZ : 0.566966042547541 ExAC_dupZ : 0.473110092947096 ExAC_synZ : 0.181971663898555 ExAC_misZ : -0.533983058360639 Closest_left : LOC128706666 Closest_right : JAG1 |
.Location : . CytoBand : p12.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567; dbVar:nssv15147284; dbVar:nssv15606052; dbVar:nssv15771677 po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012; 20:9550976-12083434; 20:10144208-11498457; 20:10253610-10673550 po_P_loss_percent : 0.00; 0.01; 0.01; 0.01; 0.01; 0.00; 0.02; 0.04; 0.12 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:10378477-10543166 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:10378477-10543166 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:10438473-10438769 Repeat_type_left : AluSx1 Gap_left : . GC_content_left : 0.435 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:10438878-10439005; 20:10439008-10439154 Repeat_type_right : FLAM_C; L1ME1 Gap_right : . GC_content_right : 0.330 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
SLX4IPGene_name : SLX4IP; LOEUF_bin : 8 GnomAD_pLI : 1.7889e-12 ExAC_pLI : 2.3388e-05 HI : . TS : . DDD_HI_percent : 38.46 ACMG : . ExAC_cnvZ : 0.683703266516 ExAC_delZ : 0.566966042547541 ExAC_dupZ : 0.473110092947096 ExAC_synZ : 0.181971663898555 ExAC_misZ : -0.533983058360639 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 128710 |
intron1-intron1Location : intron1-intron1 CytoBand : p12.2 Location2 : 5'UTR Tx : NM_001009608 Tx_version : 3 Tx_start : 10435304 Tx_end : 10628030 Exon_count : 8 Overlapped_tx_length : 500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 3119 Nearest_SS_type : 5' Intersect_start : 10438572 Intersect_end : 10439072 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:10378477-10543166 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 1 |
fullAnnotation_mode : full |
TRIB3Gene_name : TRIB3; LOEUF_bin : 9 GnomAD_pLI : 1.1597e-13 ExAC_pLI : 2.1162e-10 HI : . TS : . DDD_HI_percent : 70.41 ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.692674270052909 ExAC_synZ : 0.287188524660528 ExAC_misZ : -0.0205943258126166 Closest_left : NRSN2 Closest_right : RBCK1 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
SLC52A3 (morbid/RE=EA_enhancer); CSNK2A1 (mor[...]RE_gene : SLC52A3 (morbid/RE=EA_enhancer); CSNK2A1 (morbid/RE=EA_enhancer); RBCK1 (morbid/RE=EA_enhancer); TBC1D20 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136580; dbVar:nssv15137933; dbVar:nssv16208563; dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15141965; dbVar:nssv16254000; dbVar:nssv17969230; dbVar:nssv16215275; dbVar:nssv16867400; dbVar:nssv15132066; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv15134311; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572 po_P_loss_coord : 20:80094-1246766; 20:80107-1246891; 20:80928-1325327; 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:80928-450858; 20:80928-696793; 20:80928-826235; 20:82604-833237; 20:87138-994198; 20:89940-1360110; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:89940-975656; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966 po_P_loss_percent : 0.04; 0.04; 0.04; 0.03; 0.03; 0.03; 0.03; 0.02; 0.14; 0.08; 0.07; 0.07; 0.06; 0.04; 0.04; 0.03; 0.03; 0.03; 0.06; 0.02; 0.02; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:383851-400250; chr20:384509-399099; chr20:385214-399104; chr20:385391-399238; chr20:387037-399233; chr20:387040-418619 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:384509-399099 dbVar; chr20:385391-399238 dbVar; chr20:387040-418619 dbVar po_B_loss_someG_coord : chr20:383851-400250 dbVar; chr20:385214-399104 dbVar; chr20:387037-399233 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:390720-391024 Repeat_type_left : AluSx Gap_left : . GC_content_left : 0.525 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.650 |
|
full=1ACMG_class : full=1 |
DELSV_type : DEL SV_length : 500 |
splitAnnotation_mode : split |
TRIB3Gene_name : TRIB3; LOEUF_bin : 9 GnomAD_pLI : 1.1597e-13 ExAC_pLI : 2.1162e-10 HI : . TS : . DDD_HI_percent : 70.41 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.692674270052909 ExAC_synZ : 0.287188524660528 ExAC_misZ : -0.0205943258126166 GenCC_disease : cardiomyopathy GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 57761 |
intron2-exon3Location : intron2-exon3 CytoBand : p13 Location2 : CDS Tx : NM_021158 Tx_version : 5 Tx_start : 380759 Tx_end : 397559 Exon_count : 4 Overlapped_tx_length : 500 Overlapped_CDS_length : 76 Overlapped_CDS_percent : 7 Frameshift : yes Dist_nearest_SS : 76 Nearest_SS_type : 3' Intersect_start : 390862 Intersect_end : 391362 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:383851-400250; chr20:384509-399099; chr20:385214-399104; chr20:385391-399238; chr20:387037-399233; chr20:387040-418619 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : GTSF1L Closest_right : LOC101927200 |
.Location : . CytoBand : q13.12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118 po_P_loss_percent : 0.00; 0.00; 0.00; 0.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:43717799-43731412; chr20:43718815-43731133 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:43718815-43731133 dbVar po_B_loss_someG_coord : chr20:43717799-43731412 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.495 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:43728095-43728303 Repeat_type_right : MER58A Gap_right : . GC_content_right : 0.350 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1580 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC102724950 Closest_right : LOC105372614 |
.Location : . CytoBand : q12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665 po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806 po_P_loss_percent : 0.01; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:39704716-39713672 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 20:39708990-39709127 CMRI:0_pbsv.DEL.522_duplicate10; 20:39708991-39709127 1000g; chr20:39709005-39709127 gnomAD-SV_v3_DEL_chr20_749d8b59 po_B_loss_someG_coord : chr20:39704716-39713672 dbVar; chr20:39708990-39709127 HPRC:pbsv.DEL.3103; chr20:39708991-39709127 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.355 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.310 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 751 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : DEFB116 Closest_right : DEFB118 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:31257358-31413171 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:31257358-31413171 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:31315388-31315868 Repeat_type_left : L1ME3A Gap_left : . GC_content_left : 0.250 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:31316037-31316468 Repeat_type_right : L1ME3A Gap_right : . GC_content_right : 0.260 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : FAM182B Closest_right : LOC101926935 |
.Location : . CytoBand : p11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664 po_P_loss_coord : 20:18520274-25866684 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
HPRC:pbsv.DEL.1868B_loss_source : HPRC:pbsv.DEL.1868 B_loss_coord : chr20:25783207-25845155 B_loss_AFmax : 0.1165 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:25783207-25845155 HPRC:pbsv.DEL.1868 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 20:25752457-25845152; 20:25794647-25833697; 20:25798702-25845152; 20:25806801-25845152; 20:25806803-25845152; 20:25806803-25845152; 20:25811477-25845152; 20:25816277-25845152; 20:25818361-25845152 Repeat_coord_left : 20:25828987-25829110 Repeat_type_left : HAL1b Gap_left : . GC_content_left : 0.295 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:25752457-25845152; 20:25794647-25833697; 20:25798702-25845152; 20:25806801-25845152; 20:25806803-25845152; 20:25806803-25845152; 20:25811477-25845152; 20:25816277-25845152; 20:25818361-25845152 Repeat_coord_right : 20:25829244-25829522; 20:25829613-25829890 Repeat_type_right : AluSz; AluSx1 Gap_right : . GC_content_right : 0.440 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1824 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : CST5 Closest_right : GGTLC1 |
.Location : . CytoBand : p11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161664; dbVar:nssv15131690 po_P_loss_coord : 20:18520274-25866684; 20:21699708-24402817 po_P_loss_percent : 0.02; 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:23824091-24065887 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:23824091-24065887 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:23965839-23966067 Repeat_type_left : LOR1-int Gap_left : . GC_content_left : 0.465 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:23967614-23967748 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.555 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 500 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105372542 Closest_right : SNRPB2 |
.Location : . CytoBand : p12.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567 po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:16710285-16713588 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr20:16710285-16713588 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.350 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.475 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 110 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SLC52A3 Closest_right : FAM110A |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136580; dbVar:nssv15137933; dbVar:nssv16208563; dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv17969230; dbVar:nssv16215275; dbVar:nssv16867400; dbVar:nssv15132066; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv15134311; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572; dbVar:nssv17976759 po_P_loss_coord : 20:80094-1246766; 20:80107-1246891; 20:80928-1325327; 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:80928-826235; 20:82604-833237; 20:87138-994198; 20:89940-1360110; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:89940-975656; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966; 20:453177-822262 po_P_loss_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:817415-823695; chr20:818273-823350; chr20:819509-822261 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:818273-823350 dbVar; po_B_loss_someG_coord : chr20:817415-823695 dbVar; chr20:819509-822261 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:820435-820574 Repeat_type_left : (TTCC)n Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:820435-820574 Repeat_type_right : (TTCC)n Gap_right : . GC_content_right : 0.350 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 2024 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : TRIB3 Closest_right : RBCK1 |
.Location : . CytoBand : p13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
CSNK2A1 (morbid/RE=EA_enhancer); RBCK1 (morbi[...]RE_gene : CSNK2A1 (morbid/RE=EA_enhancer); RBCK1 (morbid/RE=EA_enhancer); SLC52A3 (morbid/RE=EA_enhancer); TBC1D20 (morbid/RE=EA_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15136580; dbVar:nssv15137933; dbVar:nssv16208563; dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15141965; dbVar:nssv16254000; dbVar:nssv17969230; dbVar:nssv16215275; dbVar:nssv16867400; dbVar:nssv15132066; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv15134311; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572; dbVar:nssv16296985 po_P_loss_coord : 20:80094-1246766; 20:80107-1246891; 20:80928-1325327; 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:80928-450858; 20:80928-696793; 20:80928-826235; 20:82604-833237; 20:87138-994198; 20:89940-1360110; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:89940-975656; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966; 20:397493-566675 po_P_loss_percent : 0.17; 0.17; 0.16; 0.13; 0.12; 0.11; 0.10; 0.09; 0.55; 0.33; 0.27; 0.27; 0.22; 0.16; 0.14; 0.12; 0.11; 0.11; 0.23; 0.10; 0.09; 0.10; 1.20 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr20:387040-418619; chr20:399171-407440 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr20:387040-418619 dbVar; po_B_loss_someG_coord : chr20:383851-400250 dbVar; chr20:399171-407440 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:399560-399706; 20:399807-400103 Repeat_type_left : MIRb; AluSz Gap_left : . GC_content_left : 0.480 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:401408-401714; 20:401715-402163 Repeat_type_right : AluSc; MER44D Gap_right : . GC_content_right : 0.335 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2D (cf B_gain_source, -1.00): Smaller than established benign copy-number gain, breakpoint(s) does not interrupt protein-coding genes. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2H-2 (THBD, +0.00): HI gene / morbid gene fully contained within observed copy-number gain and patient's phenotype is nonspecific with what is expected for LOF of that gene (Exomiser_gene_pheno_score < 0.7). 2L (LOC101929707/LOC124904964, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (4 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 49906 Gene_count : 4 |
fullAnnotation_mode : full |
LOC101929707; SSTR4; THBD; LOC124904964; [...4genes]Gene_name : LOC101929707; SSTR4; THBD; LOC124904964; LOEUF_bin : 4 GnomAD_pLI : 5.3769e-02 ExAC_pLI : 8.6909e-05 HI : . TS : . DDD_HI_percent : 80.46 ExAC_cnvZ : 0.72943116609748 ExAC_delZ : 0.405605223159341 ExAC_dupZ : 0.623262855036537 ExAC_synZ : 1.88513527185588 ExAC_misZ : 1.9035985677418 Closest_left : LOC107985449 Closest_right : CD93 |
.Location : . CytoBand : p11.21 |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
CST3 (morbid/RE=EA_enhancer); RE_gene : CST3 (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994; dbVar:nssv15161281 po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274; 20:22061587-30285812 po_P_gain_percent : 0.17; 0.19; 0.08; 0.08; 0.08; 0.08; 0.21; 0.16; 0.19; 0.17; 0.19; 0.08; 0.17; 0.33; 0.30; 0.41; 0.61 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:22899195-23319697 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:23022364-23026241 dbVar; chr20:23022538-23026473 dbVar; chr20:23031575-23031637 dbVar po_B_gain_someG_coord : chr20:22899195-23319697 dbVar; 20:23022365-23026241 1000g; chr20:23022625-23026495 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 20:23016916-23017326; 20:23017356-23017530 Repeat_type_left : L1MEb; MIRb Gap_left : . GC_content_left : 0.520 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 20:23066733-23067460 Repeat_type_right : L1ME2z Gap_right : . GC_content_right : 0.345 |
||
full=1ACMG_class : full=1 |
DUPSV_type : DUP SV_length : 49906 |
splitAnnotation_mode : split |
THBDGene_name : THBD; LOEUF_bin : 4 GnomAD_pLI : 5.3769e-02 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 80.46 ACMG : . ExAC_cnvZ : 0.0119712806830718 ExAC_delZ : -0.280794408840804 ExAC_dupZ : 0.0609813722916084 ExAC_synZ : . ExAC_misZ : . GenCC_disease : atypical hemolytic-uremic syndrome with thrombomodulin anomaly; thrombomodulin-related bleeding disorder GenCC_moi : AD; AR GenCC_classification : Limited; Moderate; Strong; Supportive GenCC_pmid : 10627464; 19625716; 20513133; 22036808; 23332921; 23787556; 25049278; 25049278[PMID]_25564403[PMID]; 25564403; 27064621; 7846065 NCBI_gene_ID : 7056 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_000361 Tx_version : 3 Tx_start : 23045632 Tx_end : 23049672 Exon_count : 1 Overlapped_tx_length : 4040 Overlapped_CDS_length : 1728 Overlapped_CDS_percent : 91 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 23045632 Intersect_end : 23049672 |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:22899195-23319697 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=1ACMG_class : full=1 |
DUPSV_type : DUP SV_length : 49906 |
splitAnnotation_mode : split |
SSTR4Gene_name : SSTR4; LOEUF_bin : 9 GnomAD_pLI : 3.6978e-13 ExAC_pLI : 8.6909e-05 HI : . TS : . DDD_HI_percent : 73.61 ACMG : . ExAC_cnvZ : 0.72943116609748 ExAC_delZ : 0.405605223159341 ExAC_dupZ : 0.623262855036537 ExAC_synZ : 1.88513527185588 ExAC_misZ : 1.9035985677418 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6754 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_001052 Tx_version : 4 Tx_start : 23035311 Tx_end : 23039237 Exon_count : 1 Overlapped_tx_length : 3926 Overlapped_CDS_length : 1167 Overlapped_CDS_percent : 31 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 23035311 Intersect_end : 23039237 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:22899195-23319697 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=1ACMG_class : full=1 |
DUPSV_type : DUP SV_length : 49906 |
splitAnnotation_mode : split |
LOC124904964Gene_name : LOC124904964; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-txEndLocation : intron1-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_007067745 Tx_version : 1 Tx_start : 23065138 Tx_end : 23069530 Exon_count : 2 Overlapped_tx_length : 2073 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 1682 Nearest_SS_type : 3' Intersect_start : 23065138 Intersect_end : 23067211 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:22899195-23319697 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=1ACMG_class : full=1 |
DUPSV_type : DUP SV_length : 49906 |
splitAnnotation_mode : split |
LOC101929707Gene_name : LOC101929707; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-intron3Location : txStart-intron3 CytoBand : p11.21 Location2 : UTR Tx : XR_007067730 Tx_version : 1 Tx_start : 22995707 Tx_end : 23030802 Exon_count : 8 Overlapped_tx_length : 13497 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 447 Nearest_SS_type : 3' Intersect_start : 23017305 Intersect_end : 23030802 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:22899195-23319697 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2D (cf B_gain_source, -1.00): Smaller than established benign copy-number gain, breakpoint(s) does not interrupt protein-coding genes. 2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (LOC107985400, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (2 genes, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 22753 Gene_count : 2 |
fullAnnotation_mode : full |
LOC107985400; LOC105372582; [...2genes]Gene_name : LOC107985400; LOC105372582; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : ZNF337 Closest_right : FAM182B |
.Location : . CytoBand : p11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA |
NAPhenoGenius_specificity : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161655; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994; dbVar:nssv15161281; dbVar:nssv17969243; dbVar:nssv17969245 po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87197-30403687; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274; 20:22061587-30285812; 20:24182140-33233051; 20:25461962-35173747 po_P_gain_percent : 0.08; 0.09; 0.04; 0.04; 0.04; 0.04; 0.08; 0.08; 0.09; 0.04; 0.08; 0.15; 0.14; 0.19; 0.28; 0.25; 0.23 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:25015257-26202005 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr20:25684814-25751914 dbVar; chr20:25746755-25759972 dbVar; chr20:25751865-25790491 dbVar po_B_gain_someG_coord : chr20:25015257-26202005 dbVar; chr20:25731016-25742904 dbVar; chr20:25751865-25785688 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 20:25752457-25756137; 20:25752457-25777418; 20:25752457-25797121; 20:25752457-25799194; 20:25752457-25845152; 20:25752460-25786934; 20:25752460-25786934; 20:25753506-25786367; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798; 20:25756106-25768377 Repeat_coord_right : 20:25756087-25756394 Repeat_type_right : AluY Gap_right : . GC_content_right : 0.530 |
|
full=1ACMG_class : full=1 |
DUPSV_type : DUP SV_length : 22753 |
splitAnnotation_mode : split |
LOC105372582Gene_name : LOC105372582; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.1 Location2 : UTR Tx : NR_135006 Tx_version : 1 Tx_start : 25751207 Tx_end : 25756050 Exon_count : 2 Overlapped_tx_length : 4843 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25751207 Intersect_end : 25756050 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:25015257-26202005; chr20:25746755-25759972 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=1ACMG_class : full=1 |
DUPSV_type : DUP SV_length : 22753 |
splitAnnotation_mode : split |
LOC107985400Gene_name : LOC107985400; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron1-txEndLocation : intron1-txEnd CytoBand : p11.1 Location2 : UTR Tx : XR_007067556 Tx_version : 1 Tx_start : 25697040 Tx_end : 25748142 Exon_count : 2 Overlapped_tx_length : 14697 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 823 Nearest_SS_type : 3' Intersect_start : 25733445 Intersect_end : 25748142 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
NAExomiser_gene_pheno_score : NA Human_pheno_evidence : NA Mouse_pheno_evidence : NA Fish_pheno_evidence : NA |
NAPhenoGenius_specificity : NA PhenoGenius_phenotype : NA PhenoGenius_score : NA |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr20:25015257-26202005; chr20:25684814-25751914 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |